Title Phenotype 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
MGI:1856336 Fgf5<go>              
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
STOCK Lcl/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2178627 Lcl MGI:2149028 Lcl
Lens cloudy. Cataracts. Mice heterozygous for this mutation show progressive cataract formation, with total opacity at approximately 3 months. Mice homozygous for this mutation have small eyes and total lens opacity at 4-5 weeks. Contact
STOCK Lhx1<tm1Bhr>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1857848 Lhx1<tm1Bhr> MGI:99783 Lhx1
Homozygous lethal at day 10 of gestation. Contact
STOCK Lig4<tiny>/ApbH
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:3714783 Lig4<tiny> MGI:1335098 Lig4
Small in size, no CD8 cells or B cells, TCR Tg appears to rescue T cells. Similar to human SCID. Contact
STOCK Lim2<To3>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1862040 Lim2<To3> MGI:104698 Lim2
Total opacity, dominant cataract. Contact
STOCK M412b
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:1857026 Foxq1<sa> MGI:1298228 Foxq1
MGI:5515447 M412b MGI:5515445 M412b
Embryonic lethal. Contact
STOCK M54B/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:5515438 M54b MGI:5515436 M54b
MGI:1857026 Foxq1<sa> MGI:1298228 Foxq1
Embryonic lethal, not fully penetrant. Possible craniofacial abnormality. Mice at weaning and when adults including the sa mice which have survived have no obvious visible phenotype. Contact
STOCK Maf<Ofl>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2654153 Maf<Ofl> MGI:96909 Maf
Contact
STOCK Mapk14<tm2Nbr> Pax7<tm1(cre)Mrc>/JpellH
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:3715522 Mapk14<tm2Nbr> MGI:1346865 Mapk14
MGI:3497712 Pax7<tm1(cre)Mrc> MGI:97491 Pax7
No reported overt phenotype. Contact
STOCK Med31<l11Jus15> +/+ In(11Trp53;11Wnt3)8Brd/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:2671886 Med31<l11Jus15> MGI:1914529 Med31
MGI:2673211 In(11Trp53;11Wnt3)8Brd MGI:2673108 In(11Trp53;11Wnt3)8Brd
Embryonic lethality with reduced cell proliferation rates in embryonic fibroblasts. Contact

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