Mouse Genome Informatics
hm
    Tmc1nice/Tmc1nice
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hearing/vestibular/ear
• at 4 weeks of age, the inner row of stereocilia of the OHC hair bundle is often irregular in length or missing
• in areas not showing degeneration the innermost row of stereocilia are nonuniform in height and missing many stereocilia
• by 8 weeks of age IHCs are completely absent from the basal region and in the mid region IHC's are largely degenerated and hair bundles are absent
• signs of degeneration are also seen in the apical region at 8 weeks of age
• by 8 weeks of age OHCs are completely absent from the basal region and in the mid region OHC's are largely degenerated and hair bundles are absent
• signs of degeneration are also seen in the apical region at 8 weeks of age
• by 8 weeks of age in the mid region
• degeneration is detected as early as 2 weeks of age
• complete degeneration of the sensory epithelium in the basal and mid region at 4 weeks of age
• signs of degeneration are also seen in the apical region at 8 weeks of age
• profound hearing loss at 4 weeks of age, ranging from 100 to greater than 120 dB SPL

behavior/neurological
N
• no circling or head tossing/tilting behaviors are seen (J:181985)

nervous system
• at 4 weeks of age, the inner row of stereocilia of the OHC hair bundle is often irregular in length or missing
• in areas not showing degeneration the innermost row of stereocilia are nonuniform in height and missing many stereocilia
• by 8 weeks of age IHCs are completely absent from the basal region and in the mid region IHC's are largely degenerated and hair bundles are absent
• signs of degeneration are also seen in the apical region at 8 weeks of age
• by 8 weeks of age OHCs are completely absent from the basal region and in the mid region OHC's are largely degenerated and hair bundles are absent
• signs of degeneration are also seen in the apical region at 8 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, Autosomal Recessive 7; DFNB7 600974 J:181985