Phenotypes Associated with This Genotype

Genotype
MGI:3715233

• Allelic Composition: Eya1^tm1Rilm/Eya1⁺; Pax2^tm1Pgr/Pax2⁺; Six1^tm1Mair/Six1⁺
• Genetic Background: involves: 129/Sv * 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, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a severely malformed cochlea with severely malformed distal tips

decreased cochlea coiling ( J:119574 )

• at E17.5, 1 of 8 triple heterozygous mutant cochleae (1 of 4 embryos) coil between 1.0 and 1.25 turns, and 7 of 8 cochleae (4 of 4 embryos) coil less than 1.0 turn

abnormal semicircular canal morphology ( J:119574 )

• within the semicircular canals, a narrower lumen is observed in some areas

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display a small posterior semicircular canal while 4 of 8 (3 of 4 embryos) show a truncated posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display significantly smaller posterior ampullae while 4 of 8 ears (3 of 4 embryos) lack posterior ampullae

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller anterior ampullae

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller lateral ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small or malformed saccula

small vestibular saccule ( J:119574 )

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 8 triple heterozygous mutant inner ears (1 of 4 embryos) display a truncated endolymphatic duct/sac