STOCK Myo7a^sh1/WtsiCnbc

Status	Available to order
EMMA ID	EM:05011
International strain name	STOCK Myo7a^sh1/WtsiCnbc
Alternative name	Shaker1
Strain type	Spontaneous
Allele/Transgene symbol	Myo7a^sh1,
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	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;
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

Usher syndrome type 1 / DOID:0110826

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)

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

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;

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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STOCK Myo7ash1/WtsiCnbc