Phenotypes Associated with This Genotype

Genotype
MGI:5571190

• Allelic Composition: Gjb2^tm1Ugds/Gjb2^tm1Ugds; Tg(Sox10-cre)1Wdr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

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

hearing/vestibular/ear

cochlear hair cell degeneration ( J:206835 )

• at 1 month of age, hair cells are partly degenerated and by 6 months, hair cells are absent

degeneration of organ of Corti supporting cells ( J:206835 )

• supporting cells in the auditory epithelium are seen in some areas but missing in others

organ of Corti degeneration ( J:206835 )

• cochleae display severe and rapid degeneration of the organ of Corti; degeneration is seen as early as 1 month of age and rapidly progresses from base to apex, such that by 6 months of age the auditory epithelium is flat throughout the cochlea

deafness ( J:206835 )

• mice show ABR threshold shifts at 12, 16, and 24 kHz, indicating substantial hearing loss

nervous system

cochlear hair cell degeneration ( J:206835 )

• at 1 month of age, hair cells are partly degenerated and by 6 months, hair cells are absent

cochlear ganglion degeneration ( J:206835 )

• spiral ganglion neuron degeneration that progresses from base to apex such that by 6 months of age, all cochlear turns show severe degeneration

• mice treated with an adenovirus expressing BDNF show preservation of the spiral ganglion neurons in the base region but does not rescue the organ of Corti degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 1A		DOID:0110475	OMIM:220290	J:206835