STOCK Myo7a^4626SB/WtsiCnbc

Status	Available to order
EMMA ID	EM:04897
International strain name	STOCK Myo7a^4626SB/WtsiCnbc
Alternative name	Myo7a<4626SB>
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Myo7a^4626SB,
Gene/Transgene symbol	Myo7a

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Additional owner	Dr Eugene Rinchik produced the mutants
Genetic information	An ENU-induced mutation of Myo7a with head bobbing, circling and deafness.
Phenotypic information	An ENU-induced mutation of Myo7a with head bobbing, circling and 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 twenty years.
References	Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation.;Holme Ralph H, Steel Karen P, ;2004;Journal of the Association for Research in Otolaryngology : JARO;5;66-79; 14648237 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 Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia.;Prosser Haydn M, Rzadzinska Agnieszka K, Steel Karen P, Bradley Allan, ;2008;Molecular and cellular biology;28;1702-12; 18160714 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 Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice.;Holme Ralph H, Steel Karen P, ;2002;Hearing research;169;13-23; 12121736 Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.;Libby R T, Steel K P, ;2001;Investigative ophthalmology & visual science;42;770-8; 11222540 N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations.;Rinchik E M, Carpenter D A, ;1999;Genetics;152;373-83; 10224267 A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.;Rhodes Charlotte R, Hertzano Ronna, Fuchs Helmut, Bell Rachel E, de Angelis Martin Hrabé, Steel Karen P, Avraham Karen B, ;2004;Mammalian genome : official journal of the International Mammalian Genome Society;15;686-97; 15389316
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)

decreased cochlear outer hair cell number / MGI
abnormal cochlear nerve compound action potential / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
decreased outer hair cell stereocilia number / MGI
increased susceptibility to age-related hearing loss / MGI
impaired hearing / MGI
abnormal cochlear outer hair cell morphology / MGI
cochlear outer hair cell degeneration / MGI
short cochlear outer hair cells / MGI
abnormal orientation of cochlear hair cell stereociliary bundles / MGI
abnormal inner hair cell stereociliary bundle morphology / MGI
abnormal cochlear hair cell inter-stereocilial links morphology / MGI
absent cochlear hair bundle ankle links / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
fused inner hair cell stereocilia / MGI

Literature references

Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation.;Holme Ralph H, Steel Karen P, ;2004;Journal of the Association for Research in Otolaryngology : JARO;5;66-79; 14648237
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
Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia.;Prosser Haydn M, Rzadzinska Agnieszka K, Steel Karen P, Bradley Allan, ;2008;Molecular and cellular biology;28;1702-12; 18160714
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
Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice.;Holme Ralph H, Steel Karen P, ;2002;Hearing research;169;13-23; 12121736
Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.;Libby R T, Steel K P, ;2001;Investigative ophthalmology & visual science;42;770-8; 11222540
N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations.;Rinchik E M, Carpenter D A, ;1999;Genetics;152;373-83; 10224267
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.;Rhodes Charlotte R, Hertzano Ronna, Fuchs Helmut, Bell Rachel E, de Angelis Martin Hrabé, Steel Karen P, Avraham Karen B, ;2004;Mammalian genome : official journal of the International Mammalian Genome Society;15;686-97; 15389316

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)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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STOCK Myo7a4626SB/WtsiCnbc