STOCK Myo7a^sh1-6J/WtsiH

Status	Available to order
EMMA ID	EM:05020
Citation information	RRID:IMSR_EM:05020 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	STOCK Myo7a^sh1-6J/WtsiH
Alternative name	Moonwalker
Strain type	Spontaneous
Allele/Transgene symbol	Myo7a^sh1-6J
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	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;
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

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)

decreased body size / MGI
abnormal gait / MGI
impaired swimming / MGI
male infertility / MGI
deafness / MGI
head tossing / MGI
retropulsion / 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

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;

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STOCK Myo7ash1-6J/WtsiH