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Phenotypes Associated with This Genotype
Genotype
MGI:3581211
Allelic
Composition
Ush1gjs/Ush1gjs
Genetic
Background
B6.A-Ush1gjs/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ush1gjs mutation (1 available); any Ush1g mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• lateral links that connect stereocilia to each other are sparse and frequently disrupted
• 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
• 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
• 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)
• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further
• 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
• no ABR response in homozygous mice was recorded at any age
• VESPs are absent at the maximum stimulus intensity used

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

nervous system
• lateral links that connect stereocilia to each other are sparse and frequently disrupted
• 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
• 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
• 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)
• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory