Table 5
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Symbol
Targeted Gene
Phenotype details
References
Map Pos.
J:39394
53.0
J:29456 J:29457
12.5
reduced beta-oxidation of very long chain fatty acids Lu et al. (1997) PNAS USA 94: 9366-9371; X-linked adrenoleukodystrophy (VLCFAs) with consequent elevation of saturated VLCFAs in ForssPetter et al. (1997) J. Neurosci. Res. 50: 829-
J:42479 J:44812
29.5
Bgn
biglycan
skeletal phenotype marked by progressive lowering of bone Xu et al.(1998) Nature Genetics 20: 78-82 mass, suggested model for role of ECM proteins in osteoporosis
J:49647
29.3
Brs3
bombesin receptor subtype-3
mild obesity, hypertension, impaired glucose metabolism, reduced metabolic rate, increased feeding efficiency and subsequent hyperphagia
J:44242
Btk
mild X-linked immunodeficiency, with additional compromise Kerner et al. (1995) Immunity 3: 301-312; of B cell precursor expansion Khan et al. (1997) Int. Immunol. 9: 395-405
Cd40l
Bruton agammaglobulinemia tyrosine kinase(=xid) CD40 antigen ligand
Cf8
coagulation factor VIII
Cf9
coagulation factor IX
<1% factor VIII clotting activity, significant bleeding after tail biopsy which may be lethal, no spontaneous bleeding absence of factor IX antigen in plasma, <5% factor IX clotting Wang et al. (1997) PNAS USA 94: 11563-11566 activity
Cybb
subunit of NADPHoxidase complex
chronic granulomatous disease(CGD), lack phagocyte superoxide production, increased susceptibility to infection and altered inflammatory response to thioglycollate peritonitis
Pollock et al. (1995) Nature Genetics 9: 202-209; J:22868 Morgenstern et al. (1997) J. Exp. Med. 185: 207-218 Medline 97169063
Dmd
dystrophin, muscular dystrophy
hypertrophic skeletal muscles, fibre size variations with necrosis and regeneration
Araki et al. (1997) Biochem. Biophys. Res. Comm. 238: 492-497
Ags
alpha galactosidase
Agtr2
angiotensin II receptor, type 2
Aldgh
clinically normal at 10 weeks, complete absence of alpha-Gal Ohshima et al. (1997) PNAS USA 94: 2540-2544 A activity, examination of liver and kidney revealed similar pathophysiology to human Fabry disease blood pressure increase, increased sensitivity to pressor Hein et al. (1995) Nature 377: 744-747; action of angiotensin II, lowered body temperature and Ichiki et al. (1995) Nature 377: 748-750 reduced exploratory behaviour
Ref. ID
total lipids of all tissues and cholesterol esters in 843 adrenocortical cells, but no neurological involvement seen in mice up to 6 months
failure to undergo isotype switching to T-cell-dependent antigens, normal response to T-cell-independent antigens
Ohki-Hamazaki et al. (1997) Nature 390: 165-169
J:28967 Medline 97244169
51.0
Castigli et al. (1995) Int. Arch. Allergy Immunol. 107: Medline 37-39; Xu et al. (1994) Immunity 1: 423-231; 95337793 Renshaw et al. (1994) J. Exp. Med. 180: 1880-1900. J:25010 J:21137 Bi et al. (1995) Nature Genetics 10: 119-121 J:24941
18.0
J:43590
J:43164
30.5 22.0 2.8
32.0
Cask
Ca2+ dependent protein kinase
cleft secondary palate, neonatal male lethality, suggested model for human X-linked cleft secondary palate syndrome
Fmr1
fragile X mental retardation syndrome 1 homologue glucose-6-phosphate dehydrogenase
Macroorchidism, learning deficits, hyperactivity and lack of normal Fmr1 protein
G6pdx
at ES cell level only, clones with undetectable levels of the enzyme are extremely sensitive to hydrogen peroxide and diamide
Wilson et al. (1993) Cell Growth & Diff. 4: 67-76; Laverty and Wilson (1998) Genomics 53: 29-41 Bakker et al. (1994) Cell 78: 23-33; Oostra and Hoogeveen et al. (1997) Annals of Medicine 29: 563-567
J:18214
5.0
J:19220 J:47489
24.5
Pandolfi et al. (1995) EMBO J. 14: 5209-5215
Medline 96080156
Gata1
GATA-binding protein 1 male neonatal lethal, mid-gestation embryos pallid with
Pevny et al. (19910 Nature 349: 257-260; Fujiwara et al. (1996) PNAS USA 93: 12355-12358; Takahashi et al. (1997) J. Biol. Chem. 272: 1261112615 from 3 months progressive demyelinating neuropathy, motor Scherer et al. (1998) Glia 24: 8-20 fibres more affected than sensory fibres, model for CharcotMarie-Tooth disease?
J:36462 J:36249 J:40321
Gjb1
gap junction protein connexin32
Medline 98365842
Gpc3 Grpr
glypican 3 gastrin releasing peptide receptor
Gyk
glycerol kinase
Hprt
hypoxanthine phosphoribosyltransferase
Htr2c
overweight because of abnormal feeding behaviour, 5-hydroxytryptamine (serotonin) receptor 2C spontaneous death from seizures
Tecott et al. (1995) Nature 374: 542-546
Il2rg
interleukin 2 receptor, gamma chain
similar phenotype to human XSCID, decrease in lymphocyte Leonard et al. (1995) Immunol. Rev. 148: 97-114; numbers but increase in monocytes, few T cells in young Sugamura et al. (1996) Ann. Rev. Immunol. 14: 179mice and no natural killer cells 205; Ohbo et al. (1996) Blood 87: 956-967
L1cam
L1 cell adhesion molecule
smaller than wild type animals, uncoordinated hind legs, hypoplasia of corticospinal tract, abnormal brain pathology, and impaired exploratory behaviour
Medline 96422667 Medline 96292426 J:31167 Dahme et al. (1997) Nature Genetics 17: 346-349; J:43838 Fransen et al. (1998) Hum. Mol. Genet. 7: 999-1009 J:47995
arrest of erythroid development
Li et al. (1998) Clin. Genet. 53: 165-170
30.02
2.1
38.0
J:47826
syntenic
no gross phenotypic abnormalities, but bombesin ineffective Hampton et al. (1998) PNAS USA 95: 3188-3192 at suppress glucose intake
J:46897
70.0
males normal at birth but exhibit growth retardation, altered Huq et al. (1997) Hum. Mol. Genet. 11: 1803-1809 fat metabolism with profound hypoglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis and death by 3-4 days. Heterozygous females are healthy and biochemically normal none unless Aprt also eliminated (Wu and Melton (1993) Hooper et al. (1987) Nature 326: 292-295; Nature Genet. 3: 235-240) Kuehn et al. (1987) Nature 326: 295-298; Nehls et al. (1994) Biotechniques 17: 770-775; Tsuda et al. (1997) Genomics 42:413-421
J:43449
33.0
J:15483 J:15485 Medline 95134423 J:41459
17.0
J:24339
66.15
38.0
29.51
Maoa
monoamine oxidase a pups had elevated serotonin levels, trembling, difficulty in
J:26232
5.2
Maob
monoamine oxidase b
J:43648
5.2
Mecp2
methyl CpG binding protein 2 murine p55
Cases et al. (1995) Science 268: 1763-1766 righting and fearfulness, adults had distinct behavioural syndrome with enhanced aggression in males increased reactivity to stress, increased levels of betaGrimsby et al. (1997) Nature Genetics 17: 206-210 phenylethylamine, resistance to neurodegenerative effects of MPTP toxin (which induces a Parkinson's like condition) chimareic embryos exhibited developmental defects with Tate et al. (1996) Nature Genetics 12: 205-208 severity proportional to mutant cell contributions
J:31573
29.6
meeting abstract
IS 10591524 J:30902
30.48
Mpp1
Kim et al. (1996) Mol. Biol. of the Cell 7: 999
Ndph
Norrie disease homologue
development of retrolental structures in vitreous body, Berger et al. (1996) Hum. Mol. Genet. 5: 51-59 disorganisation of retinal ganglion cell layer, occasional loss of outer plexiform layer with resultant interchange of inner/outer nuclear layer, absence of outer segments of photoreceptor cell layer
Ocrl
oculocerebrorenal syndrome of Lowe
no abnormal phenotype, with postulated compensation by the autosomal gene inositol polyphosphate 5-phosphatase (Inpp5b) as explanation
Janne et al. (1998) J. Clin. Invest. 101: 2042-2053
J:47884
syntenic
Piga
phosphatidylinositol glycan, class A
wrinkled and scaly skin, death a few days after birth
Tarutani et al. (1997) PNAS USA 94: 7400-7405
J:41746
67.0
Plp
myelin proteolipid protein(=DXNds2, DXMit9, jimpy)
no gross effect, assembly and maintenance of normal amounts of myelin, progressive tract-specific axonopathy notes: (1) correction of natural mutant with wild type transgene not possible (2) over expression has more severe clinical effects
Boison and Stoffel (1994) PNAS USA 91: 11709J:21976 11713; Griffiths et al. (1995) Brain Pathol. 5: 275-281; J:31051 Klugmann et al. (1997) Neuron 18: 59-70; J:38856 Griffiths et al. (1998) Microsc. Res. Tech. 41: 344-358 Medline 98336162
56.0
Pou3f4 Pou domain, class 3, transcription factor 4
vertical head bobbing and hearing loss, dysplastic bony compartment of the inner ear
Crenshaw et al.( 1998) Heredity Deafness Newsletter J:32903 15: 46; Ikeda et al. (1998) Heredity Deafness J:48665 Newsletter 15: 47-48
49.0
Pou4f2 POU domain,class 4, transcription factor 2
selective loss of 70% of retinal ganglion cells, but other neurons in the retina and brain essentially unaffected
Gan et al. (1996) PNAS USA 93: 3920-3925; Erkman et al. (1996) Nature 381: 603-606
Rep1
embryonic male lethal; heterozygous females and chimeras van den Hurk et al (1997) Hum. Mol. Genet. 6: 851have a variable number of photoreceptor cells 858
J:40673
syntenic
no gross abnormalities, mossy fibre giant terminals reduced, Rosahl et al. (1993) Cell 75: 661-670; fewer synaptic vesicles, and presynaptic structures altered Takei et al. (1995) J. Cell Bio. 131: 1789-1800
J:15701 J:30400
6.2
Syn1
Rab escort protein 1, (mutated in choroideraemia) synapsin 1
5.3
syntenic
Syp
synaptophysin
Timp
tissue inhibitor of metalloproteinase
Arrandale et al. (1996) J. Biol. Chem. 271: 21353J:35137; 1.7 21358; Chin et al. (1995) PNAS USA 92: 9230-9234; J:29085 Eshkind and Leube (1995) Cell Tissue Res. 282: J:30488 423-433; J:33035 McMahon et al. (1996) PNAS USA 93: 4760-4764 no effect on steroidogenesis, reduced ovarian TIMP2 and Nothnick et al. (1997) Bio. Reprod. 56: 1181-1188; J; 40265 Medline6.2 92348514 TIMP3, at ES cell level only, more invasive than normal cells Alexander and Werb (1992) J. Cell Biol. 118: 727-739
Wasp
Wiskott-Aldrich syndrome protein
decreased peripheral blood lymphocyte and platelet numbers, chronic colitis
Snapper et al. (1998) Immunity 9: 81-91
J:48836
2.1
Xist
inactive X specific transcripts
mutant males inaffected, females inheriting mutant paternal X chromosome severely retarded and die in utero
Marahens et al. (1997) Genes Dev. 11: 156-166
J:38094
42.0
Xnp
X-linked nuclear protein at cellular level, increased sensitivity to ionising radiation,
Essers et al. (1997) Cell 89: 195-204
J:39642
43.8
Zfx
X-linked zinc finger protein
J:41131
34.6
indistinguishable from normal littermates, predendritic neurites and axon outgrowth retarded in hippocampal neurons, with delayed synapse formation; homozygotes die prior to 10.5 dpc
mitomycin C and methyl methanesulphonate
male and female mutants smaller. with lowere viability and fewer germ cells, hemizygotes had reduced sperm count and homozygotes a reduced number of oocytes Luoh et al. (1997) 124: 22275-2284
Different ref. format
TARGETED DISRUPTION OF X-LINKED G Symbol Targeted Gene alpha galactosidase Ags Agtr2 Aldgh
Bgn Brs3 Btk Cd40l Cf8 Cf9
coagulation factor IX
Chm
mouse Choroideremia
Cybb
subunit of NADPHoxidase complex
Dmd DXRib1 Fmr1 G6pdx Gata1
Phenotype details
clinically normal at 10 weeks, complete absence of alpha-Gal A activity, examination of liver and kidney revealed similar pathophysiology to human Fabry disease angiotensin II receptor, blood pressure increase, increased sensitivity to pressor action type 2 of angiotensin II, lowered body temperature and reduced exploratory behaviour X-linked reduced beta-oxidation of very long chain fatty acids (VLCFAs) adrenoleukodystrophy with consequent elevation of saturated VLCFAs in total lipids of all tissues and cholesterol esters in adrenocortical cells, but no neurological involvement seen in mice up to 6 months skeletal phenotype marked by progressive lowering of bone biglycan mass, suggested model for role of ECM proteins in osteoporosis bombesin receptor mild obesity, hypertension, impaired glucose metabolism, subtype-3 reduced metabolic rate, increased feeding efficiency and subsequent hyperphagia Bruton mild X-linked immunodeficiency, with additional compromise of agammaglobulinemia B cell precursor expansion tyrosine kinase(=xid) failure to undergo isotype switching to T-cell-dependent CD40 antigen ligand antigens, normal response to T-cell-independent antigens coagulation factor VIII absence of factor IX antigen in plasma, model for haemophilia B embryonic male lethal
chronic granulomatous disease(CGD), lack phagocyte superoxide production, increased susceptibility to infection and altered inflammatory response to thioglycollate peritonitis dystrophin, muscular hypertrophic skeletal muscles, fibre size variations with dystrophy necrosis and regeneration fortuitous transgenic cleft secondary palate, neonatal male lethality, suggested insertion in locus model for human X-linked cleft secondary palate syndrome fragile X mental Macroorchidism, learning deficits, hyperactivity and lack of retardation syndrome 1 normal Fmr1 protein homologue glucose-6-phosphate at ES cell level only, clones with undetectable levels of the dehydrogenase enzyme are extremely sensitive to hydrogen peroxide and diamide GATA-binding protein 1 male neonatal lethal, mid-gestation embryos pallid with arrest of erythroid development
Gjb1
gap junction protein connexin32
Gpc3 Grpr
glypican 3 gastrin releasing peptide receptor
from 3 months progressive demyelinating neuropathy, motor fibres more affected than sensory fibres, model for CharcotMarie-Tooth disease? no gross phenotypic abnormalities, but bombesin ineffective at suppress glucose intake
Page 5
Different ref. format
Gyk
glycerol kinase
Hprt
hypoxanthine phosphoribosyltransferase
Htr2c
5-hydroxytryptamine (serotonin) receptor 2C interleukin 2 receptor, gamma chain
overweight because of abnormal feeding behaviour, spontaneous death from seizures similar phenotype to human XSCID, decrease in lymphocyte numbers but increase in monocytes, few T cells in young mice and no natural killer cells
L1cam
L1 cell adhesion molecule
Maoa
monoamine oxidase A
smaller than wt animals, uncoordinated hind legs, hypoplasia of corticospinal tract, abnormal brain pathology, and impaired exploratory behaviour pups had elevated serotonin levels, trembling, difficulty in righting and fearfulness, adults had distinct behavioural syndrome with enhanced aggression in males
Mpp1 Ndph
murine p55
Ocrl
oculocerebrorenal syndrome of Lowe
Piga
phosphatidylinositol glycan, class A myelin proteolipid protein(=DXNds2, DXMit9, jimpy)
Il2rg
Plp
Norrie disease homologue
Syn1
POU domain,class 4, transcription factor 2 synapsin 1
Syp
synaptophysin
Timp
tissue inhibitor of metalloproteinase Wiskott-Aldrich syndrome protein X-linked nuclear protein
Pou4f2
Wasp Xnp
males normal at birth but exhibit growth retardation, altered fat metabolism with profound hypoglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis and death by 3-4 days. Heterozygous females are healthy and biochemically normal none unless Aprt also eliminated
development of retrolental structures in vitreous body, disorganisation of retinal ganglion cell layer, occasional loss of outer plexiform layer with resultant interchange of inner/outer nuclear layer, absence of outer segments of photoreceptor cell layer no abnormal phenotype, with postulated compensation by the autosomal gene inositol polyphosphate 5-phosphatase (Inpp5b) as explanation wrinkled and scaly skin, death a few days after birth assembly and maintenance of normal amounts of myelin, progressive tract-specific axonopathy notes: (1) correction of natural mutant with wild type transgene not possible (2) over expression has more severe clinical effects selective loss of 70% of retinal ganglion cells, but other neurons in the retina and brain essentially unaffected no gross abnormalities, mossy fibre giant terminals reduced, fewer synaptic vesicles, and presynaptic structures altered indistinguishable from normal littermates, predendritic neurites and axon outgrowth retarded in hippocampal neurons, with delayed synapse formation at ES cell level only, more invasive than normal cells decreased peripheral blood lymphocyte and platelet numbers, chronic colitis at cellular level, increased sensitivity to ionising radiation, mitomycin C and methyl methanesulphonate
Page 6
Different ref. format
OF X-LINKED GENES References
Posn.
J:39394:Ohshima et al. (1997) PNAS USA 94: 2540-2544
53.0
J:29456:Hein et al. (1995) Nature 377: 744-747; J:29457:Ichiki et al. (1995) Nature 377: 748-750
12.5
J:42479:Lu et al. (1997) PNAS USA 94: 9366-9371; J:44812:ForssPetter et al. (1997) J. Neurosci. Res. 50: 829-843
29.5
J:49647:Xu et al.(1998) Nature Genetics 20: 78-82
29.3
J:44242:Ohki-Hamazaki et al. (1997) Nature 390: 165-169 J:28967:Kerner et al. (1995) Immunity 3: 301-312; Medline 97244169:Khan et al. (1997) Int. Immunol. 9: 395-405
51.0
Medline 95337793:Castigli et al. (1995) Int. Arch. Allergy Immunol. 107: 37-39 J:24941:Bi et al. (1995) Nature Genetics 10: 119-121
18.0
J:43590:Wang et al. (1997) PNAS USA 94: 11563-11566
22.0
J:40673:van den Hurk et al (1997) Hum. Mol. Genet. 6: 851858 J:22868:Pollock et al. (1995) Nature Genetics 9: 202-209; Medline 97169063:Morgenstern et al. (1997) J. Exp. Med. 185: 207-218 J:43164:Araki et al. (1997) Biochem. Biophys. Res. Comm. 238: 492-497 J:18214:Wilson et al. (1993) Cell Growth & Diff. 4: 67-76
96.5
J:19220:Bakker et al. (1994) Cell 78: 23-33; J:47489:Oostra and Hoogeveen et al. (1997) Annals of Medicine 29: 563-567 Medline 96080156:Pandolfi et al. (1995) EMBO J. 14: 52095215
24.5
J:36249:Fujiwara et al. (1996) PNAS USA 93: 12355-12358; J:40321:Takahashi et al. (1997) J. Biol. Chem. 272: 1261112615 Medline 98365842:Scherer et al. (1998) Glia 24: 8-20 J:47826:Li et al. (1998) Clin. Genet. 53: 165-170
30.5
2.8 32.0 ?
30.02 2.1 38.0 ?
J:46897:Hampton et al. (1998) PNAS USA 95: 3188-3192
Page 7
70.0
Different ref. format
J:43449:Huq et al. (1997) Hum. Mol. Genet. 11: 1803-1809
33.0
J:15483:Hooper et al. (1987) Nature 326: 292-295; J:15485:Kuehn et al. (1987) Nature 326: 295-298; Medline 95134423:Nehls et al. (1994) Biotechniques 17: 770775; J:41459:Tsuda et al.(1997) Genomics 42:413-421 J:24339:Tecott et al. (1995) Nature 374: 542-546
17.0
Medline 96422667:Leonard et al. (1995) Immunol. Rev. 148: 97-114; Medline 96292426:Sugamura et al. (1996) Ann. Rev. Immunol. 14: 179-205; J:31167:Ohbo et al. (1996) Blood 87: 956-967 J:43838:Dahme et al. (1997) Nature Genetics 17: 346-349; J:47995:Fransen et al. (1998) Hum. Mol. Genet. 7: 999-1009 J:26232:Cases et al. (1995) Science 268: 1763-1766
66.15 38.0
29.51 5.2
IS 1059-1524:Kim et al. (1996) Mol. Biol. of the Cell 7: 999 J:30902:Berger et al. (1996) Hum. Mol. Genet. 5: 51-59
J:47884:Janne et al. (1998) J. Clin. Invest. 101: 2042-2053
30.48 5.3
?
J:41746:Tarutani et al. (1997) PNAS USA 94: 7400-7405
67.0
J;31051:Griffiths et al. (1995) Brain Pathol. 5: 275-281; J:38856:Klugmann et al. (1997) Neuron 18: 59-70; Medline 98336162:Griffiths et al. (1998) Microsc. Res. Tech. 41: 344-358 J:32903:Gan et al. (1996) PNAS USA 93: 3920-3925; J:33502:Erkman et al. (1996) Nature 381: 603-606 J:15701:Rosahl et al. (1993) Cell 75: 661-670; J:30400:Takei et al. (1995) J. Cell Bio. 131: 1789-1800 J:29085:Chin et al. (1995) PNAS USA 92: 9230-9234; J:30488:Eshkind and Leube (1995) Cell Tissue Res. 282: 423433; J:33035:McMahon et al. (1996) PNAS USA 93: 4760-4764 Medline 92348514:Alexander and Werb (1992) J. Cell Biol. 118: 727-739 J:48836:Snapper et al. (1998) Immunity 9: 81-91
56.0
J:39642:Essers et al. (1997) Cell 89: 195-204
43.8
Page 8
6.2 1.7
6.2 2.1
Targeted Gene
Phenotype details
References
Map Pos.
J:39394
53.0
J:29456 J:29457
12.5
reduced beta-oxidation of very long chain fatty acids Lu et al. (1997) PNAS USA 94: 9366-9371; X-linked adrenoleukodystrophy (VLCFAs) with consequent elevation of saturated VLCFAs in ForssPetter et al. (1997) J. Neurosci. Res. 50: 829-
J:42479 J:44812
29.5
Bgn
biglycan
skeletal phenotype marked by progressive lowering of bone Xu et al.(1998) Nature Genetics 20: 78-82 mass, suggested model for role of ECM proteins in osteoporosis
J:49647
29.3
Brs3
bombesin receptor subtype-3
mild obesity, hypertension, impaired glucose metabolism, reduced metabolic rate, increased feeding efficiency and subsequent hyperphagia
J:44242
Btk
mild X-linked immunodeficiency, with additional compromise Kerner et al. (1995) Immunity 3: 301-312; of B cell precursor expansion Khan et al. (1997) Int. Immunol. 9: 395-405
Cd40l
Bruton agammaglobulinemia tyrosine kinase(=xid) CD40 antigen ligand
Cf8
coagulation factor VIII
Cf9
coagulation factor IX
<1% factor VIII clotting activity, significant bleeding after tail biopsy which may be lethal, no spontaneous bleeding absence of factor IX antigen in plasma, <5% factor IX clotting Wang et al. (1997) PNAS USA 94: 11563-11566 activity
Cybb
subunit of NADPHoxidase complex
chronic granulomatous disease(CGD), lack phagocyte superoxide production, increased susceptibility to infection and altered inflammatory response to thioglycollate peritonitis
Pollock et al. (1995) Nature Genetics 9: 202-209; J:22868 Morgenstern et al. (1997) J. Exp. Med. 185: 207-218 Medline 97169063
Dmd
dystrophin, muscular dystrophy
hypertrophic skeletal muscles, fibre size variations with necrosis and regeneration
Araki et al. (1997) Biochem. Biophys. Res. Comm. 238: 492-497
Ags
alpha galactosidase
Agtr2
angiotensin II receptor, type 2
Aldgh
clinically normal at 10 weeks, complete absence of alpha-Gal Ohshima et al. (1997) PNAS USA 94: 2540-2544 A activity, examination of liver and kidney revealed similar pathophysiology to human Fabry disease blood pressure increase, increased sensitivity to pressor Hein et al. (1995) Nature 377: 744-747; action of angiotensin II, lowered body temperature and Ichiki et al. (1995) Nature 377: 748-750 reduced exploratory behaviour
Ref. ID
total lipids of all tissues and cholesterol esters in 843 adrenocortical cells, but no neurological involvement seen in mice up to 6 months
failure to undergo isotype switching to T-cell-dependent antigens, normal response to T-cell-independent antigens
Ohki-Hamazaki et al. (1997) Nature 390: 165-169
J:28967 Medline 97244169
51.0
Castigli et al. (1995) Int. Arch. Allergy Immunol. 107: Medline 37-39; Xu et al. (1994) Immunity 1: 423-231; 95337793 Renshaw et al. (1994) J. Exp. Med. 180: 1880-1900. J:25010 J:21137 Bi et al. (1995) Nature Genetics 10: 119-121 J:24941
18.0
J:43590
J:43164
30.5 22.0 2.8
32.0
Cask
Ca2+ dependent protein kinase
cleft secondary palate, neonatal male lethality, suggested model for human X-linked cleft secondary palate syndrome
Fmr1
fragile X mental retardation syndrome 1 homologue glucose-6-phosphate dehydrogenase
Macroorchidism, learning deficits, hyperactivity and lack of normal Fmr1 protein
G6pdx
at ES cell level only, clones with undetectable levels of the enzyme are extremely sensitive to hydrogen peroxide and diamide
Wilson et al. (1993) Cell Growth & Diff. 4: 67-76; Laverty and Wilson (1998) Genomics 53: 29-41 Bakker et al. (1994) Cell 78: 23-33; Oostra and Hoogeveen et al. (1997) Annals of Medicine 29: 563-567
J:18214
5.0
J:19220 J:47489
24.5
Pandolfi et al. (1995) EMBO J. 14: 5209-5215
Medline 96080156
Gata1
GATA-binding protein 1 male neonatal lethal, mid-gestation embryos pallid with
Pevny et al. (19910 Nature 349: 257-260; Fujiwara et al. (1996) PNAS USA 93: 12355-12358; Takahashi et al. (1997) J. Biol. Chem. 272: 1261112615 from 3 months progressive demyelinating neuropathy, motor Scherer et al. (1998) Glia 24: 8-20 fibres more affected than sensory fibres, model for CharcotMarie-Tooth disease?
J:36462 J:36249 J:40321
Gjb1
gap junction protein connexin32
Medline 98365842
Gpc3 Grpr
glypican 3 gastrin releasing peptide receptor
Gyk
glycerol kinase
Hprt
hypoxanthine phosphoribosyltransferase
Htr2c
overweight because of abnormal feeding behaviour, 5-hydroxytryptamine (serotonin) receptor 2C spontaneous death from seizures
Tecott et al. (1995) Nature 374: 542-546
Il2rg
interleukin 2 receptor, gamma chain
similar phenotype to human XSCID, decrease in lymphocyte Leonard et al. (1995) Immunol. Rev. 148: 97-114; numbers but increase in monocytes, few T cells in young Sugamura et al. (1996) Ann. Rev. Immunol. 14: 179mice and no natural killer cells 205; Ohbo et al. (1996) Blood 87: 956-967
L1cam
L1 cell adhesion molecule
smaller than wild type animals, uncoordinated hind legs, hypoplasia of corticospinal tract, abnormal brain pathology, and impaired exploratory behaviour
Medline 96422667 Medline 96292426 J:31167 Dahme et al. (1997) Nature Genetics 17: 346-349; J:43838 Fransen et al. (1998) Hum. Mol. Genet. 7: 999-1009 J:47995
arrest of erythroid development
Li et al. (1998) Clin. Genet. 53: 165-170
30.02
2.1
38.0
J:47826
syntenic
no gross phenotypic abnormalities, but bombesin ineffective Hampton et al. (1998) PNAS USA 95: 3188-3192 at suppress glucose intake
J:46897
70.0
males normal at birth but exhibit growth retardation, altered Huq et al. (1997) Hum. Mol. Genet. 11: 1803-1809 fat metabolism with profound hypoglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis and death by 3-4 days. Heterozygous females are healthy and biochemically normal none unless Aprt also eliminated (Wu and Melton (1993) Hooper et al. (1987) Nature 326: 292-295; Nature Genet. 3: 235-240) Kuehn et al. (1987) Nature 326: 295-298; Nehls et al. (1994) Biotechniques 17: 770-775; Tsuda et al. (1997) Genomics 42:413-421
J:43449
33.0
J:15483 J:15485 Medline 95134423 J:41459
17.0
J:24339
66.15
38.0
29.51
Maoa
monoamine oxidase a pups had elevated serotonin levels, trembling, difficulty in
J:26232
5.2
Maob
monoamine oxidase b
J:43648
5.2
Mecp2
methyl CpG binding protein 2 murine p55
Cases et al. (1995) Science 268: 1763-1766 righting and fearfulness, adults had distinct behavioural syndrome with enhanced aggression in males increased reactivity to stress, increased levels of betaGrimsby et al. (1997) Nature Genetics 17: 206-210 phenylethylamine, resistance to neurodegenerative effects of MPTP toxin (which induces a Parkinson's like condition) chimareic embryos exhibited developmental defects with Tate et al. (1996) Nature Genetics 12: 205-208 severity proportional to mutant cell contributions
J:31573
29.6
meeting abstract
IS 10591524 J:30902
30.48
Mpp1
Kim et al. (1996) Mol. Biol. of the Cell 7: 999
Ndph
Norrie disease homologue
development of retrolental structures in vitreous body, Berger et al. (1996) Hum. Mol. Genet. 5: 51-59 disorganisation of retinal ganglion cell layer, occasional loss of outer plexiform layer with resultant interchange of inner/outer nuclear layer, absence of outer segments of photoreceptor cell layer
Ocrl
oculocerebrorenal syndrome of Lowe
no abnormal phenotype, with postulated compensation by the autosomal gene inositol polyphosphate 5-phosphatase (Inpp5b) as explanation
Janne et al. (1998) J. Clin. Invest. 101: 2042-2053
J:47884
syntenic
Piga
phosphatidylinositol glycan, class A
wrinkled and scaly skin, death a few days after birth
Tarutani et al. (1997) PNAS USA 94: 7400-7405
J:41746
67.0
Plp
myelin proteolipid protein(=DXNds2, DXMit9, jimpy)
no gross effect, assembly and maintenance of normal amounts of myelin, progressive tract-specific axonopathy notes: (1) correction of natural mutant with wild type transgene not possible (2) over expression has more severe clinical effects
Boison and Stoffel (1994) PNAS USA 91: 11709J:21976 11713; Griffiths et al. (1995) Brain Pathol. 5: 275-281; J:31051 Klugmann et al. (1997) Neuron 18: 59-70; J:38856 Griffiths et al. (1998) Microsc. Res. Tech. 41: 344-358 Medline 98336162
56.0
Pou3f4 Pou domain, class 3, transcription factor 4
vertical head bobbing and hearing loss, dysplastic bony compartment of the inner ear
Crenshaw et al.( 1998) Heredity Deafness Newsletter J:32903 15: 46; Ikeda et al. (1998) Heredity Deafness J:48665 Newsletter 15: 47-48
49.0
Pou4f2 POU domain,class 4, transcription factor 2
selective loss of 70% of retinal ganglion cells, but other neurons in the retina and brain essentially unaffected
Gan et al. (1996) PNAS USA 93: 3920-3925; Erkman et al. (1996) Nature 381: 603-606
Rep1
embryonic male lethal; heterozygous females and chimeras van den Hurk et al (1997) Hum. Mol. Genet. 6: 851have a variable number of photoreceptor cells 858
J:40673
syntenic
no gross abnormalities, mossy fibre giant terminals reduced, Rosahl et al. (1993) Cell 75: 661-670; fewer synaptic vesicles, and presynaptic structures altered Takei et al. (1995) J. Cell Bio. 131: 1789-1800
J:15701 J:30400
6.2
Syn1
Rab escort protein 1, (mutated in choroideraemia) synapsin 1
5.3
syntenic
Syp
synaptophysin
Timp
tissue inhibitor of metalloproteinase
Arrandale et al. (1996) J. Biol. Chem. 271: 21353J:35137; 1.7 21358; Chin et al. (1995) PNAS USA 92: 9230-9234; J:29085 Eshkind and Leube (1995) Cell Tissue Res. 282: J:30488 423-433; J:33035 McMahon et al. (1996) PNAS USA 93: 4760-4764 no effect on steroidogenesis, reduced ovarian TIMP2 and Nothnick et al. (1997) Bio. Reprod. 56: 1181-1188; J; 40265 Medline6.2 92348514 TIMP3, at ES cell level only, more invasive than normal cells Alexander and Werb (1992) J. Cell Biol. 118: 727-739
Wasp
Wiskott-Aldrich syndrome protein
decreased peripheral blood lymphocyte and platelet numbers, chronic colitis
Snapper et al. (1998) Immunity 9: 81-91
J:48836
2.1
Xist
inactive X specific transcripts
mutant males inaffected, females inheriting mutant paternal X chromosome severely retarded and die in utero
Marahens et al. (1997) Genes Dev. 11: 156-166
J:38094
42.0
Xnp
X-linked nuclear protein at cellular level, increased sensitivity to ionising radiation,
Essers et al. (1997) Cell 89: 195-204
J:39642
43.8
Zfx
X-linked zinc finger protein
J:41131
34.6
indistinguishable from normal littermates, predendritic neurites and axon outgrowth retarded in hippocampal neurons, with delayed synapse formation; homozygotes die prior to 10.5 dpc
mitomycin C and methyl methanesulphonate
male and female mutants smaller. with lowere viability and fewer germ cells, hemizygotes had reduced sperm count and homozygotes a reduced number of oocytes Luoh et al. (1997) 124: 22275-2284
Different ref. format
TARGETED DISRUPTION OF X-LINKED G Symbol Targeted Gene alpha galactosidase Ags Agtr2 Aldgh
Bgn Brs3 Btk Cd40l Cf8 Cf9
coagulation factor IX
Chm
mouse Choroideremia
Cybb
subunit of NADPHoxidase complex
Dmd DXRib1 Fmr1 G6pdx Gata1
Phenotype details
clinically normal at 10 weeks, complete absence of alpha-Gal A activity, examination of liver and kidney revealed similar pathophysiology to human Fabry disease angiotensin II receptor, blood pressure increase, increased sensitivity to pressor action type 2 of angiotensin II, lowered body temperature and reduced exploratory behaviour X-linked reduced beta-oxidation of very long chain fatty acids (VLCFAs) adrenoleukodystrophy with consequent elevation of saturated VLCFAs in total lipids of all tissues and cholesterol esters in adrenocortical cells, but no neurological involvement seen in mice up to 6 months skeletal phenotype marked by progressive lowering of bone biglycan mass, suggested model for role of ECM proteins in osteoporosis bombesin receptor mild obesity, hypertension, impaired glucose metabolism, subtype-3 reduced metabolic rate, increased feeding efficiency and subsequent hyperphagia Bruton mild X-linked immunodeficiency, with additional compromise of agammaglobulinemia B cell precursor expansion tyrosine kinase(=xid) failure to undergo isotype switching to T-cell-dependent CD40 antigen ligand antigens, normal response to T-cell-independent antigens coagulation factor VIII absence of factor IX antigen in plasma, model for haemophilia B embryonic male lethal
chronic granulomatous disease(CGD), lack phagocyte superoxide production, increased susceptibility to infection and altered inflammatory response to thioglycollate peritonitis dystrophin, muscular hypertrophic skeletal muscles, fibre size variations with dystrophy necrosis and regeneration fortuitous transgenic cleft secondary palate, neonatal male lethality, suggested insertion in locus model for human X-linked cleft secondary palate syndrome fragile X mental Macroorchidism, learning deficits, hyperactivity and lack of retardation syndrome 1 normal Fmr1 protein homologue glucose-6-phosphate at ES cell level only, clones with undetectable levels of the dehydrogenase enzyme are extremely sensitive to hydrogen peroxide and diamide GATA-binding protein 1 male neonatal lethal, mid-gestation embryos pallid with arrest of erythroid development
Gjb1
gap junction protein connexin32
Gpc3 Grpr
glypican 3 gastrin releasing peptide receptor
from 3 months progressive demyelinating neuropathy, motor fibres more affected than sensory fibres, model for CharcotMarie-Tooth disease? no gross phenotypic abnormalities, but bombesin ineffective at suppress glucose intake
Page 5
Different ref. format
Gyk
glycerol kinase
Hprt
hypoxanthine phosphoribosyltransferase
Htr2c
5-hydroxytryptamine (serotonin) receptor 2C interleukin 2 receptor, gamma chain
overweight because of abnormal feeding behaviour, spontaneous death from seizures similar phenotype to human XSCID, decrease in lymphocyte numbers but increase in monocytes, few T cells in young mice and no natural killer cells
L1cam
L1 cell adhesion molecule
Maoa
monoamine oxidase A
smaller than wt animals, uncoordinated hind legs, hypoplasia of corticospinal tract, abnormal brain pathology, and impaired exploratory behaviour pups had elevated serotonin levels, trembling, difficulty in righting and fearfulness, adults had distinct behavioural syndrome with enhanced aggression in males
Mpp1 Ndph
murine p55
Ocrl
oculocerebrorenal syndrome of Lowe
Piga
phosphatidylinositol glycan, class A myelin proteolipid protein(=DXNds2, DXMit9, jimpy)
Il2rg
Plp
Norrie disease homologue
Syn1
POU domain,class 4, transcription factor 2 synapsin 1
Syp
synaptophysin
Timp
tissue inhibitor of metalloproteinase Wiskott-Aldrich syndrome protein X-linked nuclear protein
Pou4f2
Wasp Xnp
males normal at birth but exhibit growth retardation, altered fat metabolism with profound hypoglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis and death by 3-4 days. Heterozygous females are healthy and biochemically normal none unless Aprt also eliminated
development of retrolental structures in vitreous body, disorganisation of retinal ganglion cell layer, occasional loss of outer plexiform layer with resultant interchange of inner/outer nuclear layer, absence of outer segments of photoreceptor cell layer no abnormal phenotype, with postulated compensation by the autosomal gene inositol polyphosphate 5-phosphatase (Inpp5b) as explanation wrinkled and scaly skin, death a few days after birth assembly and maintenance of normal amounts of myelin, progressive tract-specific axonopathy notes: (1) correction of natural mutant with wild type transgene not possible (2) over expression has more severe clinical effects selective loss of 70% of retinal ganglion cells, but other neurons in the retina and brain essentially unaffected no gross abnormalities, mossy fibre giant terminals reduced, fewer synaptic vesicles, and presynaptic structures altered indistinguishable from normal littermates, predendritic neurites and axon outgrowth retarded in hippocampal neurons, with delayed synapse formation at ES cell level only, more invasive than normal cells decreased peripheral blood lymphocyte and platelet numbers, chronic colitis at cellular level, increased sensitivity to ionising radiation, mitomycin C and methyl methanesulphonate
Page 6
Different ref. format
OF X-LINKED GENES References
Posn.
J:39394:Ohshima et al. (1997) PNAS USA 94: 2540-2544
53.0
J:29456:Hein et al. (1995) Nature 377: 744-747; J:29457:Ichiki et al. (1995) Nature 377: 748-750
12.5
J:42479:Lu et al. (1997) PNAS USA 94: 9366-9371; J:44812:ForssPetter et al. (1997) J. Neurosci. Res. 50: 829-843
29.5
J:49647:Xu et al.(1998) Nature Genetics 20: 78-82
29.3
J:44242:Ohki-Hamazaki et al. (1997) Nature 390: 165-169 J:28967:Kerner et al. (1995) Immunity 3: 301-312; Medline 97244169:Khan et al. (1997) Int. Immunol. 9: 395-405
51.0
Medline 95337793:Castigli et al. (1995) Int. Arch. Allergy Immunol. 107: 37-39 J:24941:Bi et al. (1995) Nature Genetics 10: 119-121
18.0
J:43590:Wang et al. (1997) PNAS USA 94: 11563-11566
22.0
J:40673:van den Hurk et al (1997) Hum. Mol. Genet. 6: 851858 J:22868:Pollock et al. (1995) Nature Genetics 9: 202-209; Medline 97169063:Morgenstern et al. (1997) J. Exp. Med. 185: 207-218 J:43164:Araki et al. (1997) Biochem. Biophys. Res. Comm. 238: 492-497 J:18214:Wilson et al. (1993) Cell Growth & Diff. 4: 67-76
96.5
J:19220:Bakker et al. (1994) Cell 78: 23-33; J:47489:Oostra and Hoogeveen et al. (1997) Annals of Medicine 29: 563-567 Medline 96080156:Pandolfi et al. (1995) EMBO J. 14: 52095215
24.5
J:36249:Fujiwara et al. (1996) PNAS USA 93: 12355-12358; J:40321:Takahashi et al. (1997) J. Biol. Chem. 272: 1261112615 Medline 98365842:Scherer et al. (1998) Glia 24: 8-20 J:47826:Li et al. (1998) Clin. Genet. 53: 165-170
30.5
2.8 32.0 ?
30.02 2.1 38.0 ?
J:46897:Hampton et al. (1998) PNAS USA 95: 3188-3192
Page 7
70.0
Different ref. format
J:43449:Huq et al. (1997) Hum. Mol. Genet. 11: 1803-1809
33.0
J:15483:Hooper et al. (1987) Nature 326: 292-295; J:15485:Kuehn et al. (1987) Nature 326: 295-298; Medline 95134423:Nehls et al. (1994) Biotechniques 17: 770775; J:41459:Tsuda et al.(1997) Genomics 42:413-421 J:24339:Tecott et al. (1995) Nature 374: 542-546
17.0
Medline 96422667:Leonard et al. (1995) Immunol. Rev. 148: 97-114; Medline 96292426:Sugamura et al. (1996) Ann. Rev. Immunol. 14: 179-205; J:31167:Ohbo et al. (1996) Blood 87: 956-967 J:43838:Dahme et al. (1997) Nature Genetics 17: 346-349; J:47995:Fransen et al. (1998) Hum. Mol. Genet. 7: 999-1009 J:26232:Cases et al. (1995) Science 268: 1763-1766
66.15 38.0
29.51 5.2
IS 1059-1524:Kim et al. (1996) Mol. Biol. of the Cell 7: 999 J:30902:Berger et al. (1996) Hum. Mol. Genet. 5: 51-59
J:47884:Janne et al. (1998) J. Clin. Invest. 101: 2042-2053
30.48 5.3
?
J:41746:Tarutani et al. (1997) PNAS USA 94: 7400-7405
67.0
J;31051:Griffiths et al. (1995) Brain Pathol. 5: 275-281; J:38856:Klugmann et al. (1997) Neuron 18: 59-70; Medline 98336162:Griffiths et al. (1998) Microsc. Res. Tech. 41: 344-358 J:32903:Gan et al. (1996) PNAS USA 93: 3920-3925; J:33502:Erkman et al. (1996) Nature 381: 603-606 J:15701:Rosahl et al. (1993) Cell 75: 661-670; J:30400:Takei et al. (1995) J. Cell Bio. 131: 1789-1800 J:29085:Chin et al. (1995) PNAS USA 92: 9230-9234; J:30488:Eshkind and Leube (1995) Cell Tissue Res. 282: 423433; J:33035:McMahon et al. (1996) PNAS USA 93: 4760-4764 Medline 92348514:Alexander and Werb (1992) J. Cell Biol. 118: 727-739 J:48836:Snapper et al. (1998) Immunity 9: 81-91
56.0
J:39642:Essers et al. (1997) Cell 89: 195-204
43.8
Page 8
6.2 1.7
6.2 2.1
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