Phenotypes Associated with This Genotype

Genotype
MGI:4835272

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^tm1.1Dmm; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129 * C57BL/6 * Swiss Webster

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

mortality/aging

neonatal lethality, complete penetrance ( J:164582 )

• die within 1 day of birth with no obvious milk in the stomach

hearing/vestibular/ear

abnormal ear development ( J:164582 )

• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion

abnormal cochlea morphology ( J:164582 )

• severe defects in cochlear structures

• severely hypoplastic

abnormal cochlear sensory epithelium morphology ( J:310063 )

• undulating appearance in the middle turn of the cochlea

increased cochlear outer hair cell number ( J:310063 )

• supernumerary rows of outer hair cells in the apical cochlea at P1

• occasional extra rows of outer hair cells n the middle turn

• basal turn also shows supernumerary hair cells

decreased cochlea coiling ( J:164582 )

• undercoiled with abnormal twisting at the apex

absent lateral semicircular canal ( J:164582 )

absent posterior semicircular canal ( J:164582 )

abnormal crista ampullaris morphology ( J:164582 )

• absent cristae

decreased superior semicircular canal size ( J:164582 )

• hypoplastic

abnormal inner ear vestibule morphology ( J:164582 )

• severe defects in vestibular structures

absent utricle ( J:164582 )

absent vestibular saccule ( J:164582 )

small endolymphatic duct ( J:164582 )

• hypoplastic

nervous system

abnormal neuronal precursor proliferation ( J:164582 )

• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion

increased cochlear outer hair cell number ( J:310063 )

• supernumerary rows of outer hair cells in the apical cochlea at P1

• occasional extra rows of outer hair cells n the middle turn

• basal turn also shows supernumerary hair cells

abnormal vestibulocochlear ganglion morphology ( J:164582 , J:310063 )

• about 1.5 fold smaller at E10.5-E12.5 compared to heterozygous and wild-type controls (J:164582)

• reduction in cellular proliferation at E10.5 in the vestibulocochlear ganglion (J:164582)

• neurites extending away from the hair cells show abnormal looping in the apex at P1 (J:310063)

• abnormal neuritic projections in the middle turn (J:310063)

• disorganized and misrouted neurites in the basal turn (J:310063)

abnormal neuronal precursor cell number ( J:164582 )

• severe reduction in the number of neuroblasts in the otic epithelium and vestibulocochlear ganglion at E9.5, E10.5 and E11.5

craniofacial

short snout ( J:164582 )

• at E12.5

vision/eye

ocular hypertelorism ( J:164582 )

• medially displaced eyes at E12.5

behavior/neurological

abnormal suckling behavior ( J:164582 )

• die within 1 day of birth with no obvious milk in the stomach

cellular

abnormal neuronal precursor proliferation ( J:164582 )

• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion

growth/size/body

short snout ( J:164582 )

• at E12.5