Phenotypes Associated with This Genotype

Genotype
MGI:5315001

• Allelic Composition: Tmc1^baringo/Tmc1^baringo
• Genetic Background: involves: C57BL/6

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

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:181985 )

• at 4 weeks of age, the inner (smallest) row of stereocilia is often missing or, if present, is of irregular height

cochlear inner hair cell degeneration ( J:181985 )

• by 8 weeks of age remaining IHCs in the basal and mid region show severe degeneration and fusion of stereocilia

cochlear outer hair cell degeneration ( J:181985 )

• at 4 weeks of age, the inner (smallest) row of stereocilia is often missing or, if present, is of irregular height

abnormal organ of Corti supporting cell morphology ( J:181985 )

• by 8 weeks of age lateral supporting cells show irregular morphological characteristics

cochlear degeneration ( J:181985 )

• at 4 weeks of age extensive degeneration of hair and supporting cells, and the collapse of the tunnel of Corti, is evident in the basal to mid region

organ of Corti degeneration ( J:181985 )

impaired hearing ( J:181985 )

• severe to profound hearing loss at 4 weeks of age, ranging from 85 to 120 dB SPL

behavior/neurological

behavior/neurological phenotype ( J:181985 )

N • no circling or head tossing/tilting behaviors are seen

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:181985 )

• at 4 weeks of age, the inner (smallest) row of stereocilia is often missing or, if present, is of irregular height

cochlear inner hair cell degeneration ( J:181985 )

• by 8 weeks of age remaining IHCs in the basal and mid region show severe degeneration and fusion of stereocilia

cochlear outer hair cell degeneration ( J:181985 )

• at 4 weeks of age, the inner (smallest) row of stereocilia is often missing or, if present, is of irregular height

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 7		DOID:0110520	OMIM:600974	J:181985