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; 23870131 Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64;
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

IMPC phenotypes (gene matching)

decreased lean body mass / IMPC
abnormal locomotor activation / IMPC
trunk curl / IMPC
persistence of hyaloid vascular system / IMPC
absent pinna reflex / IMPC
increased lean body mass / IMPC
impaired righting response / IMPC
increased blood urea nitrogen level / IMPC
increased total body fat amount / IMPC
decreased body weight / IMPC
increased thermal nociceptive threshold / IMPC
abnormal bone mineralization / IMPC
increased bone mineral content / IMPC
decreased body length / IMPC
abnormal behavior / IMPC
decreased bone mineral density / IMPC
increased circulating sodium level / IMPC
stereotypic behavior / IMPC

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

MGI phenotypes (gene matching)

abnormal inner ear vestibule morphology / MGI
abnormal organ of Corti morphology / MGI
abnormal hair cell morphology / MGI
abnormal head movements / MGI
abnormal retinal rod cell morphology / MGI
pigmentation phenotype / MGI
decreased body size / MGI
increased anxiety-related response / MGI
circling / MGI
hyperactivity / MGI
abnormal gait / MGI
head bobbing / MGI
decreased startle reflex / MGI
trunk curl / MGI
impaired swimming / MGI
impaired balance / MGI
reduced male fertility / MGI
male infertility / MGI
abnormal hearing physiology / MGI
deafness / MGI
abnormal parental behavior / MGI
gliosis / MGI
abnormal cochlear hair cell morphology / MGI
head shaking / MGI
cochlear ganglion degeneration / MGI
no phenotypic analysis / MGI
straub tail / MGI
abnormal ear physiology / MGI
vestibular saccular macula degeneration / MGI
cochlear hair cell degeneration / MGI
stria vascularis degeneration / MGI
abnormal cochlear outer hair cell morphology / MGI
decreased cochlear outer hair cell number / MGI
cochlear outer hair cell degeneration / MGI
absent cochlear microphonics / MGI
abnormal cochlear nerve compound action potential / MGI
short cochlear outer hair cells / MGI
abnormal orientation of outer hair cell stereociliary bundles / MGI
abnormal orientation of inner hair cell stereociliary bundles / MGI
abnormal vestibular hair cell stereociliary bundle morphology / MGI
decreased vestibular hair cell stereocilia number / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
abnormal orientation of cochlear hair cell stereociliary bundles / MGI
short cochlear hair cell stereocilia / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
decreased outer hair cell stereocilia number / MGI
abnormal inner hair cell stereociliary bundle morphology / MGI
fused inner hair cell stereocilia / MGI
decreased inner hair cell stereocilia number / MGI
abnormal cochlear hair cell inter-stereocilial links morphology / MGI
absent cochlear hair bundle ankle links / MGI
abnormal cochlear basement membrane morphology / MGI
abnormal cochlear OHC efferent innervation pattern / MGI
absent distortion product otoacoustic emissions / MGI
increased susceptibility to age-related hearing loss / MGI
increased cochlear nerve compound action potential / MGI
absent linear vestibular evoked potential / MGI
abnormal behavior / MGI
head tilt / MGI
abnormal retinal pigment epithelium morphology / MGI
head tossing / MGI
hearing/vestibular/ear phenotype / MGI
jerky movement / MGI
impaired hearing / MGI
absent pinna reflex / MGI
absent startle reflex / MGI
abnormal auditory summating potential / MGI
vestibular ganglion hypoplasia / MGI
retinal rod cell degeneration / MGI
slow postnatal weight gain / MGI
retropulsion / MGI
increased food intake / MGI
increased fluid intake / MGI
increased or absent threshold for auditory brainstem response / 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; 23870131
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64;

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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