STOCK Myo7ash1-6J/WtsiH

Status

Available to order

EMMA IDEM:05020
International strain nameSTOCK Myo7ash1-6J/WtsiH
Alternative nameMoonwalker
Strain typeSpontaneous
Allele/Transgene symbolMyo7ash1-6J
Gene/Transgene symbolMyo7a

Information from provider

ProviderKaren Steel
Provider affiliationWellcome Trust Sanger Institute
Additional ownerOriginally picked up by Verity Letts and Ken Johnson at the Jackson Labotatory.
Genetic informationA G-to-C transversion mutation is predicted to result in an arginine to proline change at position 241 in the encoded Myo7a protein.
Phenotypic informationThis 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 historyThe 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 fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Breeding at archiving centreNo breeding at archiving centre

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

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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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*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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).

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