Title Phenotype Contact
STOCK Col4a1<Raw>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2178446 Col4a1<Raw> MGI:88454 Col4a1
Retinal ateriolar wiring. Shiny retinal blood vessels. Contact
STOCK Col4a1<Svc>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2178448 Col4a1<Svc> MGI:88454 Col4a1
Small with vacuolar cataract. Also other eye abnormalities. Mutants are small and bruised at birth and tend to remain small throughout life. Variable eye findings, the most consistent of which is a vacuolar cataract. Other eye findings include enlarged eyes, corneal opacity, iris-corneal adhesions, iris-lens adhesions, retinal vascular abnormalities. Contact
STOCK Dmd<mdx> Tg(Ckm-Dmd_iDp71)MCA-1Chmb/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1856328 Dmd<mdx> MGI:94909 Dmd
MGI:2148589 Utrn<tm1Ked> MGI:104631 Utrn
MGI:5140740 Tg(Ckm-Dmd_iDp71)MCA-1Chmb              
Contact
STOCK Dmd<mdx> Tg(tetO-Utrn)1Ked/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
              MGI:5140309 Tg(tetO-Utrn)1Ked
MGI:1856328 Dmd<mdx> MGI:94909 Dmd
This stock contains a tetracyclin inducible utrophin transgene when crossed with MCK-tTA mice. Contact
STOCK Dnah11<iv>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1856917 Dnah11<iv> MGI:1100864 Dnah11
MGI:1855960 Tyrp1<b> MGI:98881 Tyrp1
Situs inversus viscerum. Mice show randomisation of situs (sidedness), 50% showing a reversal of their left and right hand sides. Such mice show no obvious deleterious effects. Mice with reversed viscera can be identified as soon after birth as milk has been ingested and until they are 4-5 days old. Using stomach and spleen position mice are classified neonatally for visceral inversions. Contact
STOCK Dync1h1<Loa>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2447991 Dync1h1<Loa> MGI:103147 Dync1h1
Legs at odd angle. Contact
STOCK Egr2<tm3Pch> Tg(CD2-cre)4Kio/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2183227 Egr2<tm3Pch> MGI:95296 Egr2
MGI:2449947 Tg(CD2-icre)4Kio MGI:2449946 Tg(CD2-icre)4Kio
Spontaneous autoimmune diseases start at late age (12 months). Contact
STOCK Epo<Tg(SV40T/Epo)134.3LCPjr>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:3767166 Epo<Tg(SV40T/Epo)134.3LCPjr>              
Homozygotes have incomplete epo deficiency and are anaemic. Contact
STOCK Fgf7<tm1e(EUCOMM)Hmgu>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:4455930 Fgf7<tm1e(EUCOMM)Hmgu> MGI:95521 Fgf7
View available phenotyping data on the IMPC portal Contact
STOCK FKRP<tm1.1Scbr>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:4835412 Fkrp<tm1.1Scbr> MGI:2447586 Fkrp
Homozygotes overtly phenotypically normal i.e. this does not mirror the severe clincal course observed in patients with the same mutation. However, mice carrying the Fkrp<tm1Scbr> allele have a phenotype that mirrors muscular dystrophy-dystroglycanopathy: muscle-eye-brain disease in Man. Contact
STOCK Fkrp<tm1Scbr>/ScbrH
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:4835411 Fkrp<tm1Scbr>              
Homozygotes are smaller than heterozygous littermates and die within the first 24 hours of birth. Both qPCR and western blotting showed that the mutation causes lower expression in homozygotes than seen in wild-type mice. Contact
STOCK Fras1<tm1.1Pjsc>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:5449386 Fras1<tm1.1Pjsc> MGI:2385368 Fras1
No phenotype as homozygous floxed allele; recapitulates constitutive null with ubiquitous Cre driver. The KO mice, when crossed with an ubiquitous cre-driving line, recapitulate the phenotype of blebbed mutant (nonsense mutation in Fras1 gene) and constitute a good model of human Fraser syndrome (skin lesions, kidney and upper airway malformations associated with high neomortality). The blebbed mutant is also archived - see FESA:001391/EM:02533. Contact
STOCK G6pdx<a-m1Neu>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2182739 G6pdx<a-m1Neu> MGI:105979 G6pdx
Low glucose-6-phosphate dehydrogenase-a activity variant. Described in 'Genetic variants and strains of the laboratory mouse' page 273 and by Charles & Pretsch (1984) Mouse News Letters, 71; 37-38 as having three levels of G6PD activity: 20% in hemizygous males, 60% in heterozygous females and 15% in homozygous females compared to wild-type. Similar levels (12%, 56% and 9% of wild-type respectively) were seen by Peters et al Genet Res 52:195-201. Peters et al reported a reduced recombination frequency between Hq-G6pd-Ta suggesting the X chromosome carrying G6pdx<a-m1Neu> suppresses recombination in this region, but no evidence of a structural rearrangement was detected cytologically. Peters & Ball (Genet Res 56: 245-252) showed greater expression of G6PD in the blood of G6pdx<a-m1Neu>/G6pdx<a> than in the reciprocal (maternal allele quoted first). This difference was greater in older mice (2-6 months) than in younger mice (one month). Sanders et al (Mut Res 374:79-87) reported finding an A to T transversion in G6pdx<a-m1Neu> at the 5' splice site consensus sequence at the 3' end of exon 1, part of the untranslated region, which is a likely cause of the lowered activity. Contact
STOCK Gja8<No2>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1857499 Gja8<No2> MGI:99953 Gja8
Cataract in lens nucleus, more severe in homozygotes. Contact
STOCK Gja8<tm1a(EUCOMM)Hmgu>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:4435449 Gja8<tm1a(EUCOMM)Hmgu> MGI:99953 Gja8
View available phenotyping data on the IMPC portal Contact
STOCK Hal<his>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1856300 Hal<his> MGI:96010 Hal
Coat Colour: Grey. Behaviour: Neurotic. Homozygotes, heterozygotes and wildtypes are not visibly distinguishable, but a urine test can rapidly screen wildtypes from homozygotes. HPLC quantification of histidine in urine can distinguish heterozygotes from homozygotes. Contact
STOCK Hnf4a<tm1(cre)Sdv>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:3052820 Hnf4a<tm1(cre)Sdv> MGI:109128 Hnf4a
Homozygous lethal at mid gestation due to defects in liver formation. Contact
STOCK Igf2<tm4Wrk>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:5309176 Igf2<tm4Wrk> MGI:96434 Igf2
Intra-uterine growth restriction (paternal transmission). Contact
STOCK Invs<inv>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1856915 Invs<inv> MGI:1335082 Invs
Homozygous embryos develop situs inversus. Contact
STOCK Kdm6a<tm2c(EUCOMM)Wtsi>/WtsiH
Allele MGI ID Allele Name Gene MGI ID Gene Name
              MGI:1095419 Kdm6a
To see phenotype data (when available) visit www.mousephenotype.org Contact

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