Phenotypes Associated with This Genotype

Genotype
MGI:2676317

• Allelic Composition: Ush1c^dfcr-2J/Ush1c^dfcr-2J
• Genetic Background: B6;129S4

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

behavior/neurological

impaired balance ( J:85400 )

head tossing ( J:85400 )

circling ( J:85400 )

hearing/vestibular/ear

abnormal inner hair cell stereociliary bundle morphology ( J:85400 )

• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed that stereocilia of the inner hair cells displayed a milder disorganization compared to the outer hair cells

abnormal outer hair cell stereociliary bundle morphology ( J:85400 )

• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed disorganization of the normally rigid and structured outer hair cell stereocilia

cochlear inner hair cell degeneration ( J:85400 )

cochlear outer hair cell degeneration ( J:85400 )

vestibular hair cell degeneration ( J:85400 )

• 3 month old mice displayed a progressive loss of vestibular hair cells

increased or absent threshold for auditory brainstem response ( J:85400 )

• complete absence of acoustic brainstem response at 3 weeks of age

deafness ( J:85400 )

• mice are congenitally deaf

nervous system

abnormal inner hair cell stereociliary bundle morphology ( J:85400 )

• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed that stereocilia of the inner hair cells displayed a milder disorganization compared to the outer hair cells

abnormal outer hair cell stereociliary bundle morphology ( J:85400 )

• at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed disorganization of the normally rigid and structured outer hair cell stereocilia

cochlear inner hair cell degeneration ( J:85400 )

cochlear outer hair cell degeneration ( J:85400 )

vestibular hair cell degeneration ( J:85400 )

• 3 month old mice displayed a progressive loss of vestibular hair cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 18A		DOID:0110473	OMIM:602092	J:85400
Usher syndrome type 1C		DOID:0110830	OMIM:276904	J:85400