- circling / MGI
- impaired swimming / MGI
- absent linear vestibular evoked potential / MGI
- abnormal organ of Corti morphology / MGI
- increased anxiety-related response / MGI
- hyperactivity / MGI
- reduced male fertility / MGI
- deafness / MGI
- gliosis / MGI
- abnormal cochlear hair cell morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal ear physiology / MGI
- vestibular saccular macula degeneration / MGI
- cochlear hair cell degeneration / MGI
- stria vascularis degeneration / MGI
- abnormal cochlear OHC efferent innervation pattern / MGI
- abnormal behavior / MGI
- head tossing / MGI
- jerky movement / MGI
- absent pinna reflex / MGI
- vestibular ganglion hypoplasia / MGI
- slow postnatal weight gain / MGI
- increased food intake / MGI
- increased fluid intake / MGI
STOCK Myo7ash1/WtsiCnbc
Status | Available to order |
EMMA ID | EM:05011 |
International strain name | STOCK Myo7ash1/WtsiCnbc |
Alternative name | Shaker1 |
Strain type | Spontaneous |
Allele/Transgene symbol | Myo7ash1, |
Gene/Transgene symbol | Myo7a |
Information from provider
Provider | Karen Steel |
Provider affiliation | Wellcome Trust Sanger Institute |
Genetic information | A spontaneous mutation of Myo7a with head bobbing, circling and deafness. |
Phenotypic information | An old spontaneous mutation of Myo7a with head bobbing, circling and progressive deafness, associated with disorganised stereocilia bundles of inner ear sensory hair cells. |
Breeding history | Introduced on a mixed genetic background and kept within a closed colony for more than 15 years. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
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
- The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse.;DEOL M S, ;1956;Proceedings of the Royal Society of London. Series B, Biological sciences;145;206-13; 13336002
- 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
- The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: ultrastructural observations.;Shnerson A, Lenoir M, van de Water T R, Pujol R, ;1983;Brain research;285;305-15; 6627025
- Cattanach's translocation as a tool for studying the action of the shaker-1 gene in the mouse.;Deol M S, Green M C, ;1969;The Journal of experimental zoology;170;301-9; 5795329
- HEARING DEGENERATION IN SHAKER-1 MOUSE. CORRELATION OF PHYSIOLOGICAL OBSERVATIONS WITH BEHAVIORAL RESPONSES AND WITH COCHLEAR ANATOMY.;MIKAELIAN D O, RUBEN R J, ;1964;Archives of otolaryngology (Chicago, Ill. : 1960);80;418-30; 14198707
- Shaker, a new mutation of the house mouse (Mus musculus);Lord EM, Gates WH;1929;Am Naturalist;63;435-42;
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