Strain Name: |
B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J |
|---|---|
Stock Number: |
000578 |
Availability: | Repository- Live |
Price and Supply Information | |
General Terms and Conditions |
| Genes & Alleles | Bmp5; Bmp5se; Myo6; Myo6sv; Tyr; Tyrc-ch; |
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation ?+F14 (06-DEC-07) Strain Description
Mice homozygous for the Snell's waltzer spontaneous mutation (Myo6sv) show to a marked degree the typical circling, head-tossing, deafness, and hyperactivity of other mutant mice of this type. Homozygous mutant mice are recognizable by the age of 1 week. The abnormalities of the inner ear consist of degeneration of the entire neuroepithelium comprising the organ of Corti, the saccular and utricular maculae, and the cristae of all three semicircular canals. Although viability of homozygotes is nearly normal, breeding ability is reduced and males are more reliable breeders than females.Specific cytoskeletal components are critical for specific cellular structures. The microvilli of intestinal brush border cells in Myo6sv homozygotes are shorter than normal. While myosin 6 is not critical for the development of hair cell stereocilia, it is essential for their maintenance. At birth the stereocilia appear nearly normal with only occasional stereocilia showing early signs of fusion at their bases, but by 3 days of age most hair cells appear disorganized with full fusing of steriocilia. Continued degeneration yields giant stereocilia by 20 days of age and degeneration of the inner and outer hair cells in the organ of Corti by 6 weeks of age. Reissner's membrane, the stria vascularis, and the spiral ganglion appear normal. At 20 or 30 days of age, direct cochlear stimulation failed to elicit a compound action potential or cochlear microphonic response indicating deafness in Myo6sv homozygotes. A mutation in human MYO6 has been associated with a nonsyndromic dominant form of deafness. (Deol and Green, 1966; Avraham et al., 1995; Self et al., 1999; Melchoinda et al., 2001; Buss et al., 2001.)
Although myosin 6 co-localization with clatherin-coated pits suggests a role in endocytosis, Self et al. reported uptake of the membrane dye FM1-43 by hair cells of 1 and 3 day old Myo6sv mutant mice indicating that endocytosis by hair cells does not require MYO6. Fibroblast cell lines from mice homozygous for the Myo6sv mutation have a 40% reduction in the level of trans-Golgi network secretion to the plasma membrane paralleling a 40% reduction in Golgi volume. Additionally, the mutant Golgi complexes are smaller and more fragmented than normal. Transfection of fibroblasts from Myo6sv homozygotes with full length myosin 6 returns the Golgi morphology and secretion to normal. (Self et al., 1999; Warner et al., 2003.) In addition to cochlear defects, homozygous mice exhibit a significant reduction in the amplitude of a and b waves as measured by electroretinogram, although there is no photoreceptor cell loss. (Kitamoto et al., 2005)
The Snell's waltzer mutation is maintained in repulsion with the closely linked short ear mutation (Bmpse), both located on Chromosome 9.
Strain Development
The chinchilla (Tyrc-ch) mutation arose spontaneously in the 1920's (Feldman H. W. 1922 Am. Nat. 56:573-574). Short ear (Bmp5se) arose spontaneously in mice obtained from a commercial breeder about 1921 (Lynch C.H. 1921 Am. Nat. 55:421-426). The Snell's waltzer (Myo6sv) mutation was found in the B10.HA(33NX) stock of Dr. G.D. Snell at the Jackson Laboratory in the late 1950s. In 1959 an Myo6sv/Myo6sv mouse was crossed to the SEC/1 strain of Dr. M. C. Green. The genotype of SEC/1 was a/a Tyrp1b/Tyrp1b Tyrc-ch/Tyrc-ch Bmp5se/+. A very close linkage was found between Bmp5se and Myo6sv and the two loci were maintained in repulsion. The stock was inbred as Tyrc-ch/Tyrc-ch Bmp5se +/+ Myo6sv and was cryopreserved in 1983 by crossing C57BL/6J females to Tyrc-ch/Tyrc-ch Bmp5se +/+ Myo6sv at F67 to generate embryos.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | Bmp5se | ||
|---|---|---|---|
| Allele Name | short ear | ||
| Common Name(s) | seGnJ; | ||
| Strain of Origin | mice from Abbie Lathrop mouse farm | ||
| Gene Symbol and Name | Bmp5, bone morphogenetic protein 5 | ||
| Chromosome | 9 | ||
| Gene Common Name(s) | AU023399; MGC34244; expressed sequence AU023399; se; short ear; | ||
| Molecular Note | The C to T transition creates a stop codon at amino acid 208. The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule. [MGI Ref ID J:21484] | ||
| Allele Symbol | Myo6sv | ||
| Allele Name | Snell's waltzer | ||
| Common Name(s) | sv; | ||
| Strain of Origin | B10.HA/(33NX)Sn | ||
| Gene Symbol and Name | Myo6, myosin VI | ||
| Chromosome | 9 | ||
| Gene Common Name(s) | BC029719; DFNA22; DFNB37; KIAA0389; RGD1560646; Snell's waltzer; cDNA sequence BC029719; sv; | ||
| Molecular Note | On the basis of a series of southern blots, this mutation appears to involve a 1.1 kb intragenic deletion. Gene transcripts could be detected by RT-PCR. Sequence analysis of these transcripts identified a 150 bp deletion corresponding to nucleotides 2456-2585. The deletion results in a frame shift which introduces a stop codon at the beginning of the neck region. [MGI Ref ID J:29898] | ||
| Allele Symbol | Tyrc-ch | ||
| Allele Name | chinchilla | ||
| Common Name(s) | cch; cr; | ||
| Strain of Origin | fancier's stock | ||
| Gene Symbol and Name | Tyr, tyrosinase | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | C; OCA1A; OCAIA; SHEP3; albino; c; skc35; skin/coat color 35; | ||
| Molecular Note | The mutation in the chinchilla allele was found to be a G to A point mutation that results in an amino acid change at position 464 from alanine to threonine. [MGI Ref ID J:19279] | ||
| Control | ||
|---|---|---|
| ? +/+ ? untested from colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for JAX® GEMM® Strains | ||
Strains carrying Bmp5se allele
000004 ABP/LeJ 000056 B6.Cg-Bmp5se/J 000285 B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J 000253 DLS/LeJ 000644 SEA/GnJ 000270 SEC/1GnLeJ View Strains carrying Bmp5se (6 strains)
Strains carrying Tyrc-ch allele
000091 129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J 001279 129T1/Sv-Oca2+ Tyrc-ch-Aft/J 000619 FS/EiJ 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 000271 SH1/LeJ 000306 STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J View Strains carrying Tyrc-ch (6 strains)
Strains carrying other alleles of Bmp5
001496 C57BL/6J-Bmp5se-4J/J 005420 C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/J 005421 CBy;B6-Bmp5cfe-se8J/J View Strains carrying other alleles of Bmp5 (3 strains)
Strains carrying other alleles of Myo6
008456 129S1/SvImJ-Myo6sv-4J/J 006124 B6.Cg-Myo6sv-2J/J 005749 C57BL/6J-Myo6sv-3J/J View Strains carrying other alleles of Myo6 (3 strains)
Strains carrying other alleles of Tyr
View Strains carrying other alleles of Tyr (40 strains)
Room Number A1
Bmp5se related
Myo6sv relatedDevelopmental Biology Research
Growth Defects
Skeletal Defects
Tyrc-ch relatedCell Biology Research
Vesicular Trafficking
Mouse/Human Gene Homologs
deafness, autosomal dominant nonsyndromic sensorineural 22 (DFNA22)
deafness, autosomal recessive nonsyndromic sensorineural 37 (DFNB37)
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects
Mouse/Human Gene Homologs
albinism, tyrosine negative
| Strain Name: | B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J |
| Stock Number: | 000578 |
IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:
| Price(s) in US dollars ($) | Genotype(s) Provided | ||||
|---|---|---|---|---|---|
| Individual Mouse Price | $264.20 | Genes in Repulsion; Assumed Wild-type for Bmp5se (Untested), Homozygous for Myo6sv | |||
| Individual Mouse Price | $264.20 | Genes in Repulsion; Homozygous for Bmp5se, Assumed Wild-type for Myo6sv (Untested) | |||
| Pair | $326.90 | Genes in Repulsion; Assumed Heterozygous for Bmp5se (Untested), Heterozygous for Myo6sv (Tested) x Genes in Repulsion; Assumed Heterozygous for Bmp5se (Untested), Heterozygous for Myo6sv (Tested) | tested for Myo6sv | ||
| Pair | $326.90 | Genes in Repulsion; Heterozygous for Bmp5se (Tested), Assumed Heterozygous for Myo6sv (Untested) x Genes in Repulsion; Heterozygous for Bmp5se (Tested), Assumed Heterozygous for Myo6sv (Untested) | tested for Bmp5se | ||
| Pair | $326.90 | Genes in Repulsion; Heterozygous for Bmp5se (Tested), Heterozygous for Myo6sv (Tested) x Genes in Repulsion; Heterozygous for Bmp5se (Tested), Heterozygous for Myo6sv (Tested) | tested for Bmp5se and Myo6sv | ||
| Pair | $307.60 | Genes is Repulsion; Assumed Heterozygous for Bmp5se (Untested), Assumed Heterozygous for Myo6sv (Untested) x Genes is Repulsion; Assumed Heterozygous for Bmp5se (Untested), Assumed Heterozygous for Myo6sv (Untested) | untested for Bmp5se and Myo6sv | ||
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement. |
|---|---|
| Supply Notes |
Histology and Tissue Collection Services are available for all JAX® Mice strains. For more information, please contact Customer Service at orderquest@jax.org or 1-207-288-5845. Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. View Control Pricing Information for JAX® Strains. |
Purchasing Information
JAX® Mice Orders
Surgical Services
Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form