Phenotypes associated with this allele

• Allele Symbol: Myo10^{tm1d(KOMP)Wtsi}
• Allele Name: targeted mutation 1d, Wellcome Trust Sanger Institute
• Allele ID: MGI:6115841
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myo10^tm1d(KOMP)Wtsi/Myo10^tm1d(KOMP)Wtsi	involves: C57BL/6 * C57BL/6N * C57BL/6NJ	MGI:6116654

Genotype
MGI:6116654

hm1

• Allelic Composition: Myo10^{tm1d(KOMP)Wtsi}/Myo10^{tm1d(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N * C57BL/6NJ
• Cell Lines: EPD0332_3_B02

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased survivor rate ( J:256438 )

• only ~40% of homozygotes survived birth; these pups were able to nurse, feed, mature into adults, and mate successfully

• the oldest mice survived over 18 months without obvious morbidity or mortality

lethality during fetal growth through weaning, incomplete penetrance ( J:256438 )

• homozygous mutant pups from heterozygous matings were obtained at less than half (~40%) the expected number, with 30 of 260 (11%) being mutant pups versus 77 of 260 (30%) wild-type pups

growth/size/body

decreased body weight ( J:256438 )

• at P21 and P28, the average body weight was slightly smaller than that of wild-type and heterozygous controls

nervous system

exencephaly ( J:256438 )

• at E12.5-E17.5, 15 of 22 (68%) of embryos exhibited exencephaly

vision/eye

persistence of hyaloid vascular system ( J:256438 )

• all adult homozygotes whose eyes were dissected (11 of 11) had persistent hyaloid vasculature that appeared as a black, pigmented retrolental mass present bilaterally

microphthalmia ( J:256438 )

• at E12.5-E14.5, 3 of 11 embryos exhibited severe microphthalmia

abnormal retina morphology ( J:256438 )

• in some adult eyes, the retrolental mass appeared to have integrated into the retina disrupting its morphology

abnormal retina vasculature morphology ( J:256438 )

• at P5, the retinal vascular network appeared to be less dense, with >30% reduction in the density of branch points per mm² relative to wild-type controls

• during retinal angiogenesis, endothelial cells showed a ~50% decrease in the number of filopodia per mm along the vascular front

anophthalmia ( J:256438 )

• at E12.5-E14.5, 2 of 11 embryos exhibited anophthalmia

cardiovascular system

abnormal retina vasculature morphology ( J:256438 )

• at P5, the retinal vascular network appeared to be less dense, with >30% reduction in the density of branch points per mm² relative to wild-type controls

• during retinal angiogenesis, endothelial cells showed a ~50% decrease in the number of filopodia per mm along the vascular front

abnormal vascular branching morphogenesis ( J:256438 )

• at P5, the retinal vascular network appeared to be less dense, with >30% reduction in the density of branch points per mm² relative to wild-type controls

pigmentation

white spotting ( J:256438 )

• all surviving homozygotes had a white belly spot; a few also had a white spot on the back

belly spot ( J:256438 )

• all surviving homozygotes had a white belly spot

limbs/digits/tail

syndactyly ( J:256438 )

• ~50% of adult homozygotes had webbed digits, usually on the forelimbs

kinked tail ( J:256438 )

• ~75% of adult homozygotes had a visible kink near the tip of the tail

integument

white spotting ( J:256438 )

• all surviving homozygotes had a white belly spot; a few also had a white spot on the back

belly spot ( J:256438 )

• all surviving homozygotes had a white belly spot

behavior/neurological

behavior/neurological phenotype ( J:256438 )

N • young adult homozygotes did not display obvious circling or shaking and showed a normal Preyer reflex