Mouse Genome Informatics
hm
    Myo6sv/Myo6sv
involves: B10.HA/(33NX)Sn * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• mutants can be identified by head bobbing
• mutants can be identified by circling behavior (J:134368)

growth/size/body
• slightly reduced body size

hearing/vestibular/ear
• in adults there was degeneration of the entire neuroepithelium in the inner ear
• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
• hair cell degeneration apparent by 3 weeks of age
• by 6 weeks of age, inner hair cells in the organ of Corti were lost
• by 6 weeks of age, outer hair cells in the organ of Corti were lost
• no action potentials generated in the cochlear nerve by direct cochlear stimulation

reproductive system
• both sexes were fertile but with reduced productivity

nervous system
• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
• cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
• by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
• hair cell degeneration apparent by 3 weeks of age
• by 6 weeks of age, inner hair cells in the organ of Corti were lost
• by 6 weeks of age, outer hair cells in the organ of Corti were lost
• no action potentials generated in the cochlear nerve by direct cochlear stimulation

vision/eye
N
• retinal morphology appears normal; photoreceptor ultrastructure and photoreceptor counts in animals aged 224-303 days are not different from controls (J:134368)
• in mutants 42-48 days old, a- and b-waves in electroretinogram are reduced in amplitude (25 and 30% respectively) compared to littermate controls
• intensity-response curves are reduced in amplitude by 20% at flash intensities above 3.0 and 6.0 log units of attenuation for a- and b-waves, respectively000
• amplitudes are similary reduced in mutants 254-257 days of age

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, Autosomal Dominant 22; DFNA22 606346 J:29898
Deafness, Autosomal Recessive 37; DFNB37 607821 J:29898