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Phenotypes Associated with This Genotype
Genotype
MGI:5575511
Allelic
Composition
Tg(CAG-Diaph3)771Lesp/0
Genetic
Background
FVB/NJ-Tg(CAG-Diaph3)771Lesp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-Diaph3)771Lesp mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

The stereocilia of Tg(CAG-Diaph3)771Lesp/0 and Tg(CAG-Diap3)924Lesp/0 mice become progressively abnormal from 4 to 24 weeks of age

mortality/aging

hearing/vestibular/ear
• at 4 weeks of age, stereocilia of inner hair cells vary in length and compactness, by 8 weeks of age, many stereocilia appear to collapse against their nearest neighbors, by 16 weeks, stereocilia are elongated and adhere to their neighbors, and at 24 weeks, stereocilia elongate even further and there are fewer stereocilia per inner hair cell
• stereocilia are thicker at the base than in the middle or tips
• the few remaining inner hair cell stereocilia are arranged in a single row rather than 3 rows
• outer hair cell stereocilia show loss of structural integrity, particularly those in the outermost row
• distortion product otoacoustic emissions at 24 weeks of age show no difference in response at 12 kHz, indicating preservation of outer hair cell function
• number of stereocilia per inner hair cell is reduced to approximately 5 compared to several dozen in wild-type mice at 24 weeks of age, with apparent fusion of the membrane surrounding them
• inner hair cell ribbon loss is notable at 16 weeks and progress to 46% loss at 24 weeks
• mice exhibit higher thresholds indicating that higher sound pressure levels are required to elicit a brainstem response
• mild 20 dB hearing loss at 12 kHz at 4 and 8 weeks of age that progresses to 40 dB at 16 weeks and 60 dB at 24 weeks at both 12 and 24 Hz

cardiovascular system

nervous system
• at 4 weeks of age, stereocilia of inner hair cells vary in length and compactness, by 8 weeks of age, many stereocilia appear to collapse against their nearest neighbors, by 16 weeks, stereocilia are elongated and adhere to their neighbors, and at 24 weeks, stereocilia elongate even further and there are fewer stereocilia per inner hair cell
• stereocilia are thicker at the base than in the middle or tips
• the few remaining inner hair cell stereocilia are arranged in a single row rather than 3 rows
• outer hair cell stereocilia show loss of structural integrity, particularly those in the outermost row
• distortion product otoacoustic emissions at 24 weeks of age show no difference in response at 12 kHz, indicating preservation of outer hair cell function
• number of stereocilia per inner hair cell is reduced to approximately 5 compared to several dozen in wild-type mice at 24 weeks of age, with apparent fusion of the membrane surrounding them
• inner hair cell ribbon loss is notable at 16 weeks and progress to 46% loss at 24 weeks

behavior/neurological
N
• mice do not show circling behavior

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant auditory neuropathy 1 DOID:0060690 OMIM:609129
J:193237


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
01/14/2020
MGI 6.14
The Jackson Laboratory