Phenotypes Associated with This Genotype

Genotype
MGI:3715118

• Allelic Composition: Eya1^tm1Rilm/Eya1⁺; Pax2^tm1Pgr/Pax2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:119574 )

• at E17.5, 4 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a malformed cochlea with enlarged and mal-shaped distal tips

decreased cochlea coiling ( J:119574 )

• at E17.5, 6 of 24 double heterozygous mutant cochleae (4 of 12 embryos) only reach 1 and 1.25 turns while 12 of 24 cochleae (8 of 12 embryos) coil between 1.5 and 1.75 turns

abnormal semicircular canal morphology ( J:119574 )

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 2 of 24 double heterozygous mutant inner ears (1 of 12 embryos) show absence of the posterior ampullae and truncation of the posterior semicircular canals

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display significantly smaller or morphologically unidentifiable ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

small vestibular saccule ( J:119574 )

• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display smaller or malshaped sacculae

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a truncated endolymphatic duct/sac