Title Phenotype Contact
STOCK G6pdx<a-m1Neu>/H 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 Cataract in lens nucleus, more severe in homozygotes. Contact
STOCK Gja8<tm1a(EUCOMM)Hmgu>/H Potential EUMODIC data in the Europhenome database. Contact
STOCK Hal<his>/H 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 Homozygous lethal at mid gestation due to defects in liver formation. Contact
STOCK Igf2<tm4Wrk>/H Intra-uterine growth restriction (paternal transmission). Contact
STOCK Invs<inv>/H Homozygous embryos develop situs inversus. Contact
STOCK Kdm6a<tm2c(EUCOMM)Wtsi>/WtsiH To see phenotype data (when available) visit www.mousephenotype.org Contact
STOCK Lcl/H 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 Homozygous lethal at day 10 of gestation. Contact
STOCK Lig4<tiny>/ApbH 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 Total opacity, dominant cataract. Contact
STOCK M412b Embryonic lethal. Contact
STOCK M54B/H 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 Contact
STOCK Mapk14<tm2Nbr> Pax7<tm1(cre)Mrc>/JpellH No reported overt phenotype. Contact
STOCK Med31<l11Jus15> +/+ In(11Trp53;11Wnt3)8Brd/H Embryonic lethality with reduced cell proliferation rates in embryonic fibroblasts. Contact
STOCK Micu1<tm1aNarl>/H To see phenotype data (when available) visit www.mousephenotype.org Contact
STOCK Mitf<Rorp>/H Dilute coat/ear/tail colour. Heterozygotes have pigment dilution, while homozygotes lack coat pigment, but retain eye (iris) pigment and do not have small eyes. Contact
STOCK Mut1154/H Small at birth and small at weaning with cranial doming, variably wide between eyes and shortened nasal passage. Very limited weight data, but heterozygotes estimated to be 15% smaller than wild-type sibs at weaning. Not deaf. Cytogenetics: no obvious gross chromosome abnormality detected. Contact

Pages