Phenotypes associated with this allele

• Allele Symbol: Tmc1^dn
• Allele Name: deafness
• Allele ID: MGI:1856845
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmc1^dn/Tmc1^dn	involves: STOCK Grhl3^ct * M. m. molossinus	MGI:2177313
hm2	Tmc1^dn/Tmc1^dn	STOCK Grhl3^ct/J	MGI:2177312
ht3	Tmc1^dn/Tmc1^+	involves: STOCK Grhl3^ct * M. m. molossinus	MGI:2177314
ht4	Tmc1^dn/Tmc1^+	STOCK Grhl3^ct/J	MGI:2177315

Genotype
MGI:2177313

hm1

• Allelic Composition: Tmc1^dn/Tmc1^dn
• Genetic Background: involves: STOCK Grhl3^ct * M. m. molossinus

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

hearing/vestibular/ear

abnormal ear morphology ( J:22445 )

abnormal hearing physiology ( J:22445 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 36		DOID:0110563	OMIM:606705	J:22445
autosomal recessive nonsyndromic deafness 7		DOID:0110520	OMIM:600974	J:22445

Genotype
MGI:2177312

hm2

• Allelic Composition: Tmc1^dn/Tmc1^dn
• Genetic Background: STOCK Grhl3^ct/J

hearing/vestibular/ear

abnormal ear morphology ( J:236 , J:1600 , J:6409 , J:28899 , J:32691 )

abnormal scala media morphology ( J:236 )

• degeneration of most elements of the scala media complex is underway by three weeks of age

Deiters cell degeneration ( J:236 )

• Dieters cell boundaries become indistinct and nuclei move to different levels by 10 days of age

organ of Corti degeneration ( J:236 )

• by 9 months of age, the organ is a mass of undifferentiated cells, although the tunnel of Corti does not usually collapse

abnormal stria vascularis morphology ( J:236 )

• abnormalities can be detected at 10 days of age

abnormal tectorial membrane morphology ( J:236 )

• the free end of the membrane curls up rather than resting on hair cells by 10 days

vestibular saccular macula degeneration ( J:236 )

• some degeneration is observed in most mice

• in severe cases, hair cells degenerate completely

abnormal otolith morphology ( J:236 )

• in some mice, the otolith membrane degenerates completely and otoliths are lost

abnormal hearing physiology ( J:236 , J:1600 , J:6409 , J:6806 , J:28899 , J:32693 )

deafness ( J:236 )

• mice do not respond to clicking

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:236 )

head tossing ( J:236 )

• tossing movement is observed in some mice although behavior is otherwise normal

nervous system

nervous system phenotype ( J:6806 )

N • no abnormal central or peripheral nervous system phenotupes detected

cochlear ganglion degeneration ( J:236 )

• spiral ganglion degeneration begins at 50 days of age

• by 9 months, degeneration is nearly complete

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 36		DOID:0110563	OMIM:606705	J:236
autosomal recessive nonsyndromic deafness 7		DOID:0110520	OMIM:600974	J:236

Genotype
MGI:2177314

ht3

• Allelic Composition: Tmc1^dn/Tmc1⁺
• Genetic Background: involves: STOCK Grhl3^ct * M. m. molossinus

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:22445 )

N • no abnormal ear phenotypes detected

Genotype
MGI:2177315

ht4

• Allelic Composition: Tmc1^dn/Tmc1⁺
• Genetic Background: STOCK Grhl3^ct/J

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:14069 )

N • no abnormal ear phenotypes detected