Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6J Donor Strain B6;SJL-TgN(c17lacZ)226Bri Generation N10F13p Generation Definitions

Appearance
black, tremors
Related Genotype: a/a Myo7a^sh1-8J/Myo7a^sh1-8J

black, unaffected
Related Genotype: a/a Myo7a^sh1-8J/+

Description
Myo7a^sh1-8J homozygous mice circle and bob their heads; heterozygotes are behaviorally normal. Homozygotes of both sexes are viable and fertile (Samples 2000). The hearing of Myo7a^sh1-8J mutants has not been examined. However, other Myo7a mutations, whose behavioral phenotypes are virtually identical to that of Myo7a^sh1-J, are associated with deafness.

Mutations in the human ortholog of Myo7a, MYO7A, have been characterized in pedigrees of patients having Usher syndrome type 1 (USH1), an autosomal recessive disorder characterized by profound deafness, vestibular dysfunction and progressive retinitis pigmentosa (Weil et al., 1995; Weston et al., 1996; Adato et al., 1997; Levy et al., 1997; Liu et al., 1998; Espinos et al., 1998; Cuevas et al., 1998, 1999; Janecke et al., 1999). MYO7A mutations have also been identified in patients with autosomal dominant non-syndromic deafness (Liu et al., 1997) and autosomal recessive isolated deafness (Liu et al., 1997; Weil et al., 1997).

Development
The Myo7a^sh1-8J mutation occurred spontaneously on B6,SJL-TgN(c177lacZ)226Bri while the latter was being bred in the Importation facility at The Jackson Laboratory. Myo7a^sh1-8J was transferred to the C57BL/6J background by seven rounds of backcross-intercross breeding; homozygous males produced by mating heterozygous sibs were bred to C57BL/6J females to yield the next generation of heterozygotes. The colony was genotyped for TgN(c177lacZ)226Bri in March, 2000 and verified free of the transgene.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Myo7a

005468	C57BL/6J-Myo7ash1-11J/J
000619	FS/EiJ
000271	SH1/LeJ
002919	STOCK Myo7ash1-7J/J

View Strains carrying other alleles of Myo7a     (4 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Deafness, Autosomal Dominant 11; DFNA11   (MYO7A) Deafness, Autosomal Recessive 2; DFNB2   (MYO7A) Usher Syndrome, Type I; USH1   (MYO7A)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Myo7a^sh1-8J/Myo7a⁺

        B6.Cg-Myo7a^sh1-8J/J

• hearing/vestibular/ear phenotype
• impaired hearing
  • slight but significant impairment compared to C57BL/6J controls only in older mice   (MGI Ref ID J:183898)

Myo7a^sh1-8J/Myo7a^sh1-8J

        B6.Cg-Myo7a^sh1-8J/J

• hearing/vestibular/ear phenotype
• abnormal cochlear hair cell stereociliary bundle morphology
  • hair bundles are disorganized at P2 and P6   (MGI Ref ID J:183898)
• abnormal utricle morphology
  • hair bundles are disorganized at P2 and P6   (MGI Ref ID J:183898)
• abnormal vestibular saccule morphology
  • hair bundles are disorganized at P2 and P6   (MGI Ref ID J:183898)
• increased or absent threshold for auditory brainstem response
  • lack ABR response even at the highest stimulus intensity (100 dB sound pressure level)   (MGI Ref ID J:183898)
• behavior/neurological phenotype
• circling   (MGI Ref ID J:183898)
• pigmentation phenotype
• *normal* pigmentation phenotype
  • mice exhibit wild-type iris pigmentation   (MGI Ref ID J:141035)
• nervous system phenotype
• abnormal cochlear hair cell stereociliary bundle morphology
  • hair bundles are disorganized at P2 and P6   (MGI Ref ID J:183898)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Myo7a^sh1-8J/Myo7a^sh1-8J

        involves: C57BL/6J * SJL

• behavior/neurological phenotype
• abnormal parental behavior
  • homozygotes of both sexes breed, but are not good parents   (MGI Ref ID J:77937)
• circling
  • mice walk in a circling motion   (MGI Ref ID J:77937)
• head bobbing   (MGI Ref ID J:77937)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Myo7a^sh1-8J related

Neurobiology Research
Hearing Defects
Tremor Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Myo7ash1-8J
Allele Name		shaker 1, 8 Jackson
Allele Type		Spontaneous
Strain of Origin		B6;SJL-Tg(c177-lacZ)226Bri/J
Gene Symbol and Name		Myo7a, myosin VIIA
Chromosome		7
Gene Common Name(s)		DFNA11; DFNB2; Hdb; MYOVIIA; MYU7A; Myo7; NSRD2; USH1B; headbanger; myosin VII; neuroscience mutagenesis facility, 371; nmf371; polka; sh-1; sh1; shaker 1;
General Note		Genetic Background: The 266Bri stock on which Myo7ash1-8J arose was homozygous for a lacZ transgene. The mutation was not the result of the transgene integration, as not all animals exhibited the neurological phenotype.
Molecular Note		Two genomic regions encompassing a total of about 6.4 kb was deleted n this mutation. One region spans about 3.6 kb and covers exons 38 through 40. The other region spans about 2.8 kb and covers exons 46 and 47. Immunoblot analysis failed to detect protein in extracts from homozygous mice. [MGI Ref ID J:183898] [MGI Ref ID J:77937]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Gibson F; Walsh J; Mburu P; Varela A; Brown KA; Antonio M; Beisel KW; Steel KP; Brown SD. 1995. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374(6517):62-4. [PubMed: 7870172]  [MGI Ref ID J:23257]

Weil D; Blanchard S; Kaplan J; Guilford P; Gibson F; Walsh J; Mburu P; Varela A; Levilliers J; Weston MD; Kelley PM; Kimberling WJ; Wagenaar M; Levi-Acobas F; Larget-Piet D; Munnich A; Steel KP; Brown SDM; Petit C.. 1995. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374(6517):60-1. [PubMed: 7870171]  [MGI Ref ID J:23239]

Weil D; Kussel P; Blanchard S; Levy G; Levi-Acobas F; Drira M ; Ayadi H ; Petit C. 1997. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16(2):191-3. [PubMed: 9171833]  [MGI Ref ID J:40770]

Myo7a^sh1-8J related

Anderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234]  [MGI Ref ID J:141035]

Osterweil E; Wells DG; Mooseker MS. 2005. A role for myosin VI in postsynaptic structure and glutamate receptor endocytosis. J Cell Biol 168(2):329-38. [PubMed: 15657400]  [MGI Ref ID J:95877]

Samples RM; Ward-Bailey P; Washburn LL; Donahue LR. 2002. A new shaker 1 mutation of the Myo7 gene in the mouse MGI Direct Data Submission :.  [MGI Ref ID J:77937]

Zheng QY; Scarborough JD; Zheng Y; Yu H; Choi D; Gillespie PG. 2012. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet 21(11):2588-98. [PubMed: 22381527]  [MGI Ref ID J:183898]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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