Phenotypes Associated with This Genotype

Genotype
MGI:3790950

hm3

• Allelic Composition: Lrp2^tm1Her/Lrp2^tm1Her
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:134797 )

• most mutants die shortly after birth, although a few homozygotes reach adulthood

hearing/vestibular/ear

abnormal strial marginal cell morphology ( J:134797 )

• lipofuscin granules are more abundant in the marginal cells than in wild-type

• the number of microvilli in marginal cells of the stria vascularis is reduced

• apical surfaces of marginal cells are more irregular than in wild-type

abnormal hearing physiology ( J:134797 )

increased or absent threshold for auditory brainstem response ( J:134797 )

• the two surviving mutants exhibit increased ABR threshold indicating hearing loss at 3 months of age

increased susceptibility to age-related hearing loss ( J:134797 )

• strial presbycusis

impaired hearing ( J:134797 )

• analysis of ABR thresholds shows that the two surviving mutants exhibit profound hearing loss at 3 months of age