Phenotypes Associated with This Genotype

Genotype
MGI:5314999

• Allelic Composition: Tmc1^stitch/Tmc1^stitch
• 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 row of stereocilia of the OHC hair bundle is often irregular in length or missing

cochlear inner hair cell degeneration ( J:181985 )

• loss of inner hair cells in the basal turn at 8 weeks of age

cochlear outer hair cell degeneration ( J:181985 )

• loss of outer hair cells in the basal turn at 8 weeks of age

cochlear degeneration ( J:181985 )

• at 4 weeks of age slight indications of hair cell degeneration are seen

• at 8 weeks, but not at 4 weeks, of age the basal region lacks sensory or supporting cells and the organ/tunnel of Corti has collapsed

organ of Corti degeneration ( J:181985 )

impaired hearing ( J:181985 )

• display a hearing loss ranging from 60 to 120 dB SPL at 4 weeks of age

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 row of stereocilia of the OHC hair bundle is often irregular in length or missing

cochlear inner hair cell degeneration ( J:181985 )

• loss of inner hair cells in the basal turn at 8 weeks of age

cochlear outer hair cell degeneration ( J:181985 )

• loss of outer hair cells in the basal turn at 8 weeks of age

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