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Strain Name:

B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J

Stock Number:

000578

Availability:

Repository- Live


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Genes & Alleles   Bmp5;   Bmp5se;   Myo6;   Myo6sv;   Tyr;   Tyrc-ch;


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Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Specieslaboratory 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

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22; DFNA22
Deafness, Congenital Neurosensory, Autosomal Recessive 37; DFNB37
Ear, Patella, Short Stature Syndrome
Mammalian Phenotype Terms assigned by genotype

Myo6sv/Myo6+

        B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
  • hearing/vestibular/ear phenotype
  • reduced linear vestibular evoked potential (MGI Ref ID J:116914)
    • elevated threshold and reduced amplitudes

Myo6sv/Myo6sv

        B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
  • hearing/vestibular/ear phenotype
  • absent linear vestibular evoked potential (MGI Ref ID J:116914)
    • VESPs are absent at the maximum stimulus intensity used
  • circling (MGI Ref ID J:116914)
  • behavior/neurological phenotype
  • abnormal reflex (MGI Ref ID J:116914)
    • abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior
  • circling (MGI Ref ID J:116914)
  • impaired swimming (MGI Ref ID J:116914)
    • mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface

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

Bmp5se/Bmp5se

        SEC/Gn
  • skeleton phenotype
  • abnormal cartilage development (MGI Ref ID J:13011)
    • cartilage forms more slowly in healing rib fractures
  • abnormal osteogenesis (MGI Ref ID J:13011)
    • reduced rate of proliferation of osteogenic cells of the periosteum in healing rib fractures

Bmp5se/Bmp5se

        SEC/1Gn
  • skeleton phenotype
  • abnormal cartilage development (MGI Ref ID J:13011)
    • cartilage forms more slowly in healing rib fractures
  • cardiovascular system phenotype
  • abnormal artery morphology (MGI Ref ID J:5086)
    • the right renal artery lies ventral to the posterior vena cava rather than dorsal to it as in controls
  • immune system phenotype
  • granulomatous inflammation (MGI Ref ID J:5086)
    • granulomas are seen on the ventral surface of the central and left lateral lobes of the liver
  • liver/biliary system phenotype
  • abnormal liver morphology (MGI Ref ID J:5086)
    • increase in liver lesions, mainly due to an increase in granulomas
  • respiratory system phenotype
  • lung cysts (MGI Ref ID J:5086)
    • have numerous small cysts in the lungs

Myo6sv/Myo6sv

        involves: B10.HA/(33NX)Sn * C57BL/6J
  • behavior/neurological phenotype
  • hyperactivity (MGI Ref ID J:29898)
  • stereotypic behavior (MGI Ref ID J:29898)
    • circling (MGI Ref ID J:29898)
      • mutants can be identified by circling behavior
    • head bobbing (MGI Ref ID J:134368)
      • mutants can be identified by head bobbing
    • head tossing (MGI Ref ID J:29898)
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:86379)
    • slightly reduced body size
  • hearing/vestibular/ear phenotype
  • abnormal cochlear sensory epithelium morphology (MGI Ref ID J:29898)
    • in adults there was degeneration of the entire neuroepithelium in the inner ear
    • cochlear hair cell degeneration (MGI Ref ID J:29898)
      • hair cell degeneration apparent by 3 weeks of age
    • cochlear inner hair cell degeneration (MGI Ref ID J:29898)
      • by 6 weeks of age, inner hair cells in the organ of Corti were lost
    • cochlear outer hair cell degeneration (MGI Ref ID J:29898)
      • by 6 weeks of age, outer hair cells in the organ of Corti were lost
    • fused inner hair cell stereocilia (MGI Ref ID J:58030)
      • cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
      • by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
    • fused outer hair cell stereocilia (MGI Ref ID J:58030)
      • cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
      • by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
  • absent cochlear nerve compound action potential (MGI Ref ID J:29898)
    • no action potentials generated in the cochlear nerve by direct cochlear stimulation
  • circling (MGI Ref ID J:29898)
    • mutants can be identified by circling behavior
  • head bobbing (MGI Ref ID J:134368)
    • mutants can be identified by head bobbing
  • head tossing (MGI Ref ID J:29898)
  • organ of Corti degeneration (MGI Ref ID J:29898)
    • in adults
  • reproductive system phenotype
  • reduced fertility (MGI Ref ID J:29898)
    • both sexes were fertile but with reduced productivity
  • nervous system phenotype
  • absent cochlear nerve compound action potential (MGI Ref ID J:29898)
    • no action potentials generated in the cochlear nerve by direct cochlear stimulation
  • cochlear hair cell degeneration (MGI Ref ID J:29898)
    • hair cell degeneration apparent by 3 weeks of age
  • cochlear inner hair cell degeneration (MGI Ref ID J:29898)
    • by 6 weeks of age, inner hair cells in the organ of Corti were lost
  • cochlear outer hair cell degeneration (MGI Ref ID J:29898)
    • by 6 weeks of age, outer hair cells in the organ of Corti were lost
  • fused inner hair cell stereocilia (MGI Ref ID J:58030)
    • cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
    • by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
  • fused outer hair cell stereocilia (MGI Ref ID J:58030)
    • cochlear hair cells appear to start develop normally, but from around birth these arrays become progressively more disorganized and the stereocilia fuse
    • by 3 days after birth, practically all hair cells are affected, and stereocilia fusion is extensive
  • vision/eye phenotype
  • *normal* vision/eye phenotype (MGI Ref ID J:134368)
    • retinal morphology appears normal; photoreceptor ultrastructure and photoreceptor counts in animals aged 224-303 days are not different from controls
    • abnormal eye electrophysiology (MGI Ref ID J:134368)
      • in mutants 42-48 days old, a- and b-waves in electroretinogram are reduced in amplitude (25 and 30% respectively) compared to littermate controls
      • intensity-response curves are reduced in amplitude by 20% at flash intensities above 3.0 and 6.0 log units of attenuation for a- and b-waves, respectively000
      • amplitudes are similary reduced in mutants 254-257 days of age

Gene & Allele Details

Allele Symbol Bmp5se
Allele Name short ear
Common Name(s) seGnJ;
Strain of Originmice 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 OriginB10.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 Originfancier'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 Information

  Control
   ? +/+ ? untested from colony
 
  Considerations for Choosing Controls
  Control Pricing Information for JAX® GEMM® Strains

Related 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)

View Strains carrying other alleles of Tyr     (40 strains)

Animal Health Reports

Room Number           A1

Research Applications

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

Bmp5se related

Developmental Biology Research
Growth Defects
Skeletal Defects

Myo6sv related

Cell 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

Tyrc-ch related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects

Mouse/Human Gene Homologs
albinism, tyrosine negative

References

Additional References

Price and Supply Information

Strain Name: B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
Stock Number: 000578

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

*Pricing for Shipping Destination selected:

        International

Price(s) in US dollars ($)Genotype(s) Provided
Individual Mouse Price $264.20Genes in Repulsion; Assumed Wild-type for Bmp5se (Untested), Homozygous for Myo6sv
Individual Mouse Price $264.20Genes in Repulsion; Homozygous for Bmp5se, Assumed Wild-type for Myo6sv (Untested)
Pair $326.90Genes 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 $326.90Genes 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 $326.90Genes 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 $307.60Genes 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

Supply Details

Standard SupplyRepository-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.
LicensingSee General Terms and Conditions below  
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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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