- decreased cochlear outer hair cell number / MGI
- abnormal cochlear nerve compound action potential / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- decreased outer hair cell stereocilia number / MGI
- increased susceptibility to age-related hearing loss / MGI
- impaired hearing / MGI
- abnormal cochlear outer hair cell morphology / MGI
- cochlear outer hair cell degeneration / MGI
- short cochlear outer hair cells / MGI
- abnormal orientation of cochlear hair cell stereociliary bundles / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- abnormal cochlear hair cell inter-stereocilial links morphology / MGI
- absent cochlear hair bundle ankle links / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- fused inner hair cell stereocilia / MGI
STOCK Myo7a4626SB/NihrH
Status | Available to order |
EMMA ID | EM:00442 |
International strain name | STOCK Myo7a4626SB/NihrH |
Alternative name | Myo7a |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Myo7a4626SB, |
Gene/Transgene symbol | Myo7a |
Information from provider
Provider | Karen Steel |
Provider affiliation | Wellcome Trust Sanger Institute |
Phenotypic information | Mice homozygous for this mutation exhibit almost constant circling behaviour and show no Preyer reflex. Heterozygotes and wild-types are indistinguishable. |
References |
|
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Usher syndrome type 1 / Orphanet_231169
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Usher syndrome type 2 / Orphanet_231178
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (allele matching)
Literature references
- A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.;Rhodes Charlotte R, Hertzano Ronna, Fuchs Helmut, Bell Rachel E, de Angelis Martin Hrabé, Steel Karen P, Avraham Karen B, ;2004;Mammalian genome : official journal of the International Mammalian Genome Society;15;686-97; 15389316
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).