Phenotypes Associated with This Genotype

Genotype
MGI:5314998

• Allelic Composition: Tmc1^nice/Tmc1^nice
• 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

• in areas not showing degeneration the innermost row of stereocilia are nonuniform in height and missing many stereocilia

cochlear inner hair cell degeneration ( J:181985 )

• by 8 weeks of age IHCs are completely absent from the basal region and in the mid region IHC's are largely degenerated and hair bundles are absent

• signs of degeneration are also seen in the apical region at 8 weeks of age

cochlear outer hair cell degeneration ( J:181985 )

• by 8 weeks of age OHCs are completely absent from the basal region and in the mid region OHC's are largely degenerated and hair bundles are absent

• signs of degeneration are also seen in the apical region at 8 weeks of age

abnormal Deiters cell morphology ( J:181985 )

• by 8 weeks of age in the mid region

cochlear degeneration ( J:181985 )

• degeneration is detected as early as 2 weeks of age

• complete degeneration of the sensory epithelium in the basal and mid region at 4 weeks of age

• signs of degeneration are also seen in the apical region at 8 weeks of age

impaired hearing ( J:181985 )

• profound hearing loss at 4 weeks of age, ranging from 100 to greater than 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 row of stereocilia of the OHC hair bundle is often irregular in length or missing

• in areas not showing degeneration the innermost row of stereocilia are nonuniform in height and missing many stereocilia

cochlear inner hair cell degeneration ( J:181985 )

• by 8 weeks of age IHCs are completely absent from the basal region and in the mid region IHC's are largely degenerated and hair bundles are absent

• signs of degeneration are also seen in the apical region at 8 weeks of age

cochlear outer hair cell degeneration ( J:181985 )

• by 8 weeks of age OHCs are completely absent from the basal region and in the mid region OHC's are largely degenerated and hair bundles are absent

• signs of degeneration are also seen in the apical region 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