Mouse Genome Informatics
hm
    Myo7admbo2/Myo7admbo2
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Degeneration and/or misorientation of outer hair cell bundles in Myo7aewaso/Myo7aewaso and Myo7admbo2/Myo7admbo2 cochlea

hearing/vestibular/ear
N
• mice exhibit normal vestibular function, tympanic membrane, bulla, ossicles, supporting cells and zone of polarity reversal of vestibular hair cell bundles (J:195666)
• progressive degeneration with additional rows of stereocilia
• misoriented at P5 in the apical, mid and basal levels
• more so at 2 weeks at all levels
• progressive misorientation with advancing age with disintegration in parts
• however, sensory epithelium degeneration is minimal at 8 weeks and large numbers of outer hair cell bundles are still present
• some of the tallest or shortest sterocilia are missing in some bundles
• severe from 4 weeks
• however, mice retain some residual hearing at 24 weeks
• severe from 4 weeks

nervous system
• progressive degeneration with additional rows of stereocilia
• misoriented at P5 in the apical, mid and basal levels
• more so at 2 weeks at all levels
• progressive misorientation with advancing age with disintegration in parts
• however, sensory epithelium degeneration is minimal at 8 weeks and large numbers of outer hair cell bundles are still present
• some of the tallest or shortest sterocilia are missing in some bundles

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, Autosomal Recessive 2; DFNB2 600060 J:195666