Phenotypes associated with this allele

• Allele Symbol: Ush1c^tm1.1Ugds
• Allele Name: targeted mutation 1.1, Unite de Genetique des Deficits Sensoriels
• Allele ID: MGI:3757683
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ush1c^tm1.1Ugds/Ush1c^tm1.1Ugds	involves: 129S2/SvPas	MGI:3796329

Genotype
MGI:3796329

hm1

• Allelic Composition: Ush1c^tm1.1Ugds/Ush1c^tm1.1Ugds
• Genetic Background: involves: 129S2/SvPas

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

hearing/vestibular/ear

abnormal cochlear hair cell inter-stereocilial links morphology ( J:135991 )

• lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal inner hair cell stereociliary bundle morphology ( J:135991 )

• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles

• stereocilia of the small and medium rows have round, oblate tips instead of prolate tips

abnormal orientation of cochlear hair cell stereociliary bundles ( J:135991 )

• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 29% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice

• the mean absolute kinociliary deviation is 26 degrees compared to 8 degrees in wild-type mice

abnormal cochlear outer hair cell morphology ( J:158897 )

• at P5, outer hair cell fold angle peaks at zero degrees indicating no detectable concavity unlike in wild-type mice

• the contour of the cuticular plate remains convex unlike in wild-type mice

• outer hair cells exhibit a slight flattening of their neural and abneural sides compared to in wild-type mice

abnormal outer hair cell stereociliary bundle morphology ( J:135991 , J:141421 , J:158897 )

• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

• mice exhibit an expansion in the distribution of lateral links and bending of adjacent stereocilia in the outer hair cell hair bundle unlike in wild-type mice (J:141421)

• hair bundles are fragmented compared to in wild-type mice (J:158897)

nervous system

abnormal cochlear hair cell inter-stereocilial links morphology ( J:135991 )

• lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal inner hair cell stereociliary bundle morphology ( J:135991 )

• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles

• stereocilia of the small and medium rows have round, oblate tips instead of prolate tips

abnormal orientation of cochlear hair cell stereociliary bundles ( J:135991 )

• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 29% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice

• the mean absolute kinociliary deviation is 26 degrees compared to 8 degrees in wild-type mice

abnormal cochlear outer hair cell morphology ( J:158897 )

• at P5, outer hair cell fold angle peaks at zero degrees indicating no detectable concavity unlike in wild-type mice

• the contour of the cuticular plate remains convex unlike in wild-type mice

• outer hair cells exhibit a slight flattening of their neural and abneural sides compared to in wild-type mice

abnormal outer hair cell stereociliary bundle morphology ( J:135991 , J:141421 , J:158897 )

• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles (J:135991)

• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles (J:135991)

• mice exhibit an expansion in the distribution of lateral links and bending of adjacent stereocilia in the outer hair cell hair bundle unlike in wild-type mice (J:141421)

• hair bundles are fragmented compared to in wild-type mice (J:158897)