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Strain Name:

SH1/LeJ

Stock Number:

000271

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Genes & Alleles   Myo7a;   Myo7ash1;   Tyr;   Tyrc-ch;

Product Information

Strain Details

Type Inbred Strain
Additional information on Inbred Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse
GenerationF97p

Appearance
chinchilla, circles
Related Genotype: Tyrc-ch Myo7ash1/Tyrc-ch Myo7ash1

chinchilla, unaffected
Related Genotype: Tyrc-ch Myo7ash1/Tyrc-ch +

Important Note
This strain is homozygous for Tyrc-ch and segregating for Myo7ash1.

Strain Description
Mice homozygous for the shaker 1 spontaneous mutation (Myo7ash1) show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist of degeneration of the organ of Corti, the spiral ganglion, and the stria vascularis in the cochlea, and of the saccular macula and the vestibular ganglion in the vestibular labyrinth.

Strain Development
The shaker 1 (Myo7ash1) strain originated in 1957 with two FS/Ei siblings at F5 mated. One sibling was also mated to a C57BL/6J and the offspring of the two FS/Ei mice were mated to a C3HeB/FeJ. Several within stock matings were made from both crosses and 2 siblings were each mated to a C3HeB/FeJ. Two generations were stock bred and the chinchilla shaker1 genotype was selected for inbreeding with the Myo7ash1 locus segregating. It was cryopreserved in 1989 by mating chinchilla shaker1 (Tyrc-ch Myo7ash1/Tyrc-ch Myo7ash1) males to chinchilla but shaker1 heterozygous (Tyrc-ch Myo7ash1/Tyrc-ch +) females at F96.

Related Disease (OMIM) Terms

Usher Syndrome, Type I
Mammalian Phenotype Terms assigned by genotype

Myo7ash1/Myo7ash1

        SH1/LeJ
  • hearing/vestibular/ear phenotype
  • absent linear vestibular evoked potential (J:116914)
    • VESPs are absent at the maximum stimulus intensity used
  • circling (J:116914)
  • behavior/neurological phenotype
  • circling (J:116914)
  • impaired swimming (J:116914)
    • mice exhibit reduced swimming ability; mice can swim at or near the surface of the water, but do not maintain a horizontal body position

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

Myo7ash1/Myo7ash1

        involves: BALB
  • behavior/neurological phenotype
  • abnormal behavior (J:15554)
    • when placed on a cold concrete floor mice rarely travel more than 6 feet and this distance is covered in short jerky stops and starts
    • absent pinna reflex (J:14858)
      • by 22 days
    • circling (J:15554)
      • 14% of mice exhibit a moderate circling behavior with a tendency to circle counter-clockwise
    • hyperactivity (J:15554)
    • impaired swimming (J:13130)
      • while mice can swim at a young age their lose their ability to do so in the second month of age
    • increased anxiety-related response (J:15554)
    • increased drinking behavior (J:15554)
      • water consumption is increased compared to in wild type mice
    • increased eating behavior (J:15554)
    • jerky movement (J:15554)
      • mice display a nervous head movement characterized by rapid, successive jerking of the head upwards accompanied by sniffing and twitching of the vibrissae
      • however, mice can cease their head jerking for periods of time and appear normal
  • growth/size phenotype
  • postnatal slow weight gain (J:15554)
  • hearing/vestibular/ear phenotype
  • abnormal ear physiology (J:14858)
    • cochlear potential is delayed by one day compared to in wild type mice and mice do not respond to the full range of frequencies
    • eighth nerve activity N1 and N2 is delayed and never obtain the amplitude that they do in wild type mice
    • by day 22, eighth nerve action potential has disappeared
    • absent pinna reflex (J:14858)
      • by 22 days
    • circling (J:15554)
      • 14% of mice exhibit a moderate circling behavior with a tendency to circle counter-clockwise
    • deafness (J:15554)
      • mice become deaf at around 22 to 30 days
      • by 22 days hearing is lost
  • abnormal organ of Corti (J:14846)
    • formation of fluid spaces is delayed with no tunnel spaces evident until day 12 and intercellular spaces between hair cells not apparent until day 21
    • maturation of the organ of Corti is delayed as indicated by the presence of round or ovoid shaped outer hair cells at day 10 and deformation of Nuel's spaces and the tunnel of Corti
    • by day 18 Nuel's spaces have not formed and the tectorial membrane remains attached to the reticular lamina
    • abnormal cochlear hair cell morphology (J:14846)
      • the intercellular spaces that appear between hair cells occur at day 21 instead of day 10 as in wild type mice
      • efferent nerve innervation does not occur until day 12 compared to day 10 in wild type mice and only a small number can be found
      • mitochondrial swelling and vesicle formation are observed in both afferent and efferent nerve endings as mice age
      • no auditory hair cells can be found between the level of the reticular lamina and the tectorial membrane
      • abnormal cochlear OHC efferent innervation (J:28477)
        • efferent arrival at the outer hair cell is delayed
        • however, efferent nerve supply to the inner hair cells is normal if not over-abundant
      • cochlear hair cell degeneration (J:13130)
        • degeneration of the hair cells occurs at 7 weeks of age
        • hair cells are absent in adult mice
        • hair cell degeneration is apparent as early as 12 days
        • by 4 months
  • saccular macula degeneration (J:13130)
    • at 21 days
  • stria vascularis degeneration (J:14858)
    • by 4 months, the stria vascularis is atrophic
  • reproductive system phenotype
  • reduced male fertility (J:15554)
    • males tend towards infertility because of their nervous condition
  • nervous system phenotype
  • abnormal cochlear hair cell morphology (J:14846)
    • the intercellular spaces that appear between hair cells occur at day 21 instead of day 10 as in wild type mice
    • efferent nerve innervation does not occur until day 12 compared to day 10 in wild type mice and only a small number can be found
    • mitochondrial swelling and vesicle formation are observed in both afferent and efferent nerve endings as mice age
    • no auditory hair cells can be found between the level of the reticular lamina and the tectorial membrane
    • abnormal cochlear OHC efferent innervation (J:28477)
      • efferent arrival at the outer hair cell is delayed
      • however, efferent nerve supply to the inner hair cells is normal if not over-abundant
    • cochlear hair cell degeneration (J:13130)
      • degeneration of the hair cells occurs at 7 weeks of age
      • hair cells are absent in adult mice
      • hair cell degeneration is apparent as early as 12 days
      • by 4 months
  • cochlear ganglion degeneration (J:13130)
    • after 2 months
    • spiral ganglia formation is delayed and fewer spiral ganglia are present
    • by day 10, spiral ganglion cells are unmyelinated and contain a large number of swollen mitochondria, dense bodies and an expanse of smooth endoplasmic reticulum
    • at 22 days, mice have few spiral ganglia that are irregular, small, show more chromatic stiplings and minimal vascuolization
    • by 4 months, ganglion cells have atrophied
  • gliosis (J:14891)
    • mice exhibit increases fibrous astrocytes in the medial vestibular nucleus
  • vestibular ganglion hypoplasia (J:13130)
    • at 67 days

Gene & Allele Details

Allele Symbol Myo7ash1
Allele Name shaker 1
Common Name(s) sh1; shaker-1;
Strain of OriginBALB at F12
Gene Symbol and Name Myo7a, myosin VIIa
Chromosome 7
Gene Common Name(s) DFNA11; DFNB2; MYOVIIA; MYU7A; Myo7; NSRD2; USH1B; myosin VII; neuroscience mutagenesis facility, 371; nmf371; sh-1; sh1; shaker 1;
Molecular Note A G-to-C transversion mutation is predicted to result in an arginine to proline change at position 502 in the encoded protein. This mutation is predicted to lie within the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that normal levels of the protein was expressed. [J:23257]
 
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. [J:19279]

Control Information

  Allele   Control
 Myo7ash1  Heterozygote from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Myo7ash1 allele
000619   FS/EiJ
View Strains carrying   Myo7ash1     (1 strain)

View Strains carrying   Tyrc-ch     (6 strains)

Strains carrying other alleles of Myo7a
003184   B6.Cg-Myo7ash1-8J/J
005468   C57BL/6J-Myo7ash1-11J/J
002919   STOCK Myo7ash1-7J/J
View Strains carrying other alleles of Myo7a     (3 strains)

View Strains carrying other alleles of Tyr     (30 strains)

Research Applications

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

Myo7ash1 related

Dermatology Research
Color and White Spotting Defects (oculocutaneous albinism, type I)

Mouse/Human Gene Homologs
Usher syndrome, type IB (deafness, neurosensory, autosomal recessive, 2, and deafness, autosomal dominant nonsyndromic sensorineural, 11)

Neurobiology Research
Tremor Defects
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: SH1/LeJ
Stock Number: 000271

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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Control InformationView Control Information in Strain Details.

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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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