Phenotypes Associated with This Genotype

Genotype
MGI:7518606

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:310063 )

• 57% shorter compared to controls

abnormal cochlear sensory epithelium morphology ( J:310063 )

• region specific defects in innervation and patterning of the sensory epithelium

• in the middle region there is a narrowing of the epithelium with missing outer hair cells and a bifurcation of the direction of neuritic projections, with most neurites projecting towards the apex rather than the base

• severity of the phenotype in the middle region varies widely in severity

• some show undulating epithelium

increased cochlear hair cell number ( J:310063 )

• abundant supernumerary hair cells in the apex

• less frequent supernumerary hair cells in the middle section

• rarely see supernumerary hair cells in the base

nervous system

increased cochlear hair cell number ( J:310063 )

• abundant supernumerary hair cells in the apex

• less frequent supernumerary hair cells in the middle section

• rarely see supernumerary hair cells in the base

abnormal vestibulocochlear ganglion morphology ( J:310063 )

• disorganized spiral ganglion neurite projections in the apex of the cochlea