Phenotypes Associated with This Genotype

Genotype
MGI:3581211

• Allelic Composition: Ush1g^js/Ush1g^js
• Genetic Background: B6.A-Ush1g^js/J

• ♀: 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 37% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice

• the mean absolute kinociliary deviation is 25 degrees compared to 8 degrees in wild-type mice

abnormal outer hair cell stereociliary bundle morphology ( J:2196 , J:135991 )

• incomplete differentiation of stereocilia of the outer hair cells (J:2196)

• outer hair cells did not show regular W-shaped configuration of the stereocilia throughout the entire turns of the cochlea except for a few hair cells (J:2196)

• 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)

cochlear outer hair cell degeneration ( J:135991 )

short cochlear outer hair cells ( J:135991 )

• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further

abnormal vestibular hair cell stereociliary bundle morphology ( J:2196 )

• incomplete differentiation of stereocilia of the maculae

• in hair cells of the utricular and saccular maculae, the classical pipe organ configuration of the stereocilia was not observed

increased or absent threshold for auditory brainstem response ( J:2196 )

• no ABR response in homozygous mice was recorded at any age

deafness ( J:2196 )

absent linear vestibular evoked potential ( J:116914 )

• VESPs are absent at the maximum stimulus intensity used

behavior/neurological

abnormal reflex ( J:116914 )

• abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior

abnormal pinna reflex ( J:2196 )

impaired swimming ( J:116914 )

• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface

head shaking ( J:2196 )

hyperactivity ( J:2196 )

circling ( J:2196 , J:116914 )

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 37% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice

• the mean absolute kinociliary deviation is 25 degrees compared to 8 degrees in wild-type mice

abnormal outer hair cell stereociliary bundle morphology ( J:2196 , J:135991 )

• incomplete differentiation of stereocilia of the outer hair cells (J:2196)

• outer hair cells did not show regular W-shaped configuration of the stereocilia throughout the entire turns of the cochlea except for a few hair cells (J:2196)

• 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)

cochlear outer hair cell degeneration ( J:135991 )

short cochlear outer hair cells ( J:135991 )

• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further

abnormal vestibular hair cell stereociliary bundle morphology ( J:2196 )

• incomplete differentiation of stereocilia of the maculae

• in hair cells of the utricular and saccular maculae, the classical pipe organ configuration of the stereocilia was not observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1G		DOID:0110834	OMIM:606943	J:82022