MGI phenotypes (allele matching)
STOCK Myo7ash1-6J/WtsiH
| Status | Available to order |
| EMMA ID | EM:05020 |
| International strain name | STOCK Myo7ash1-6J/WtsiH |
| Alternative name | Moonwalker |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Myo7ash1-6J, |
| Gene/Transgene symbol | Myo7a |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Additional owner | Originally picked up by Verity Letts and Ken Johnson at the Jackson Labotatory. |
| Genetic information | A G-to-C transversion mutation is predicted to result in an arginine to proline change at position 241 in the encoded Myo7a protein. |
| Phenotypic information | This is a spontaneous mutation affecting the sensory hair cells of the inner ear and leading to deafness and balance defects with circling and head bobbing. |
| Breeding history | The mutation originated on a C57BLKS/J genetic background and was outcrossed and intercrossed with AKR/J for mapping. It was then maintained on the same background within a closed colony for over fifteen years. These embryos have been produced by mating homozygous males with CBA/Ca females. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Breeding at archiving centre | No breeding at archiving centre |
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
Literature references
- Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells.;Self T, Mahony M, Fleming J, Walsh J, Brown S D, Steel K P, ;1998;Development (Cambridge, England);125;557-66; 9435277
- Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression.;Hasson T, Walsh J, Cable J, Mooseker M S, Brown S D, Steel K P, ;1997;Cell motility and the cytoskeleton;37;127-38; 9186010
- A type VII myosin encoded by the mouse deafness gene shaker-1.;Gibson F, Walsh J, Mburu P, Varela A, Brown K A, Antonio M, Beisel K W, Steel K P, Brown S D, ;1995;Nature;374;62-4; 7870172
- Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations.;Kros C J, Marcotti W, van Netten S M, Self T J, Libby R T, Brown S D M, Richardson G P, Steel K P, ;2002;Nature neuroscience;5;41-7; 11753415
- Mutation analysis of the mouse myosin VIIA deafness gene.;Mburu P, Liu X Z, Walsh J, Saw D, Cope M J, Gibson F, Kendrick-Jones J, Steel K P, Brown S D, ;1997;Genes and function;1;191-203; 9680294
- The inner ear in Bronx waltzer mice.;Deol M S, ;1981;Acta oto-laryngologica;92;331-6; 7324900
- Remutation at the shaker-1 locus;Letts VA, Gervais JLM, Frankel WN;1994;Mouse Genome;92;116;