Phenotypes Associated with This Genotype

Genotype
MGI:3715225

• Allelic Composition: Eya1^tm1Rilm/Eya1⁺; 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 inner ear morphology ( J:119574 )

• at E17.5, double heterozygotes display an enhanced inner ear phenotype relative to each single heterozygous mutant animal

abnormal cochlea morphology ( J:119574 )

• at E17.5, 4 of 20 double heterozygous mutant inner ears (4 of 10 embryos) display a malformed cochlea

decreased cochlea coiling ( J:119574 )

• at E17.5, 6 of 20 double heterozygous mutant cochleae (4 of 10 embryos) coil between 1.5 to 1.75 turns, 4 of 20 cochleae (3 of 10 embryos) coil between 1.25 and 1.5 turns, 5 of 20 cochlea (4 of 10 embryos) coil between 1.0 and 1.25 turns, and 4 of 20 cochleae (3 of 10 embryos) coil less than 1.0 turn

abnormal semicircular canal morphology ( J:119574 )

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a truncated posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 9 of 20 double heterozygous mutant inner ears (5 of 10 embryos) display significantly smaller posterior ampullae while 2 of 20 (1 of 10 embryos) lack posterior ampullae

• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display significantly smaller anterior ampullae

• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display significantly smaller lateral ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display smaller or malshaped sacculae

short endolymphatic duct ( J:119574 )

• at E17.5, 3 of 20 double heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac