Mouse Genome Informatics
hm
    Pcdh15av-3J/Pcdh15av-3J
C57BL/6J-Pcdh15av-3J/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hearing/vestibular/ear
N
• normal endocochlear potential (J:106625)
• histochemistry of the organ of Corti shows the centrosomes in the normal position (J:106625)
• cytocauds are not observed (J:106625)
• diminished amounts of actin in the stereocilia and cuticular plate
• lateral links that connect stereocilia to each other are sparse and frequently disrupted
• apical links are not present in P5 mice
• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) 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)
• kinocilia are often dissassociated from the stereociliary clumps
• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 26% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 38 degrees compared to 8 degrees in wild-type mice
• 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)
• kinocilia are often dissassociated from the stereociliary clumps
• as early as 9 days of age there is no ABR response even at 20 kHz
• 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
• 3 of 4 mice tested exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface (J:116914)

nervous system
• diminished amounts of actin in the stereocilia and cuticular plate
• lateral links that connect stereocilia to each other are sparse and frequently disrupted
• apical links are not present in P5 mice
• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) 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)
• kinocilia are often dissassociated from the stereociliary clumps
• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 26% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 38 degrees compared to 8 degrees in wild-type mice
• 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)
• kinocilia are often dissassociated from the stereociliary clumps

cellular
• kinocilia are often dissassociated from the stereociliary clumps
• kinocilia are often dissassociated from the stereociliary clumps

Mouse Models of Human Disease
OMIM IDRef(s)
Usher Syndrome, Type IF; USH1F 602083 J:95655