Strain Detail Sheet

Strain Name:
C57BL/6J-Myo5ad-n3Btlr/Mmmh
Stock Number:
038247--TBD-
Citation ID:
RRID:MMRRC_038247--TBD-
Other Names:
naoki
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Myo5ad-n3Btlr
Name: myosin VA; dilute neurological 3 Bruce Beutler
Synonyms: naoki
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 9
Alteration at locus: Chemically Induced
Myo5a
Name: myosin VA
Synonyms: MVa, MyoVA, Myo5, flail, 9630007J19Rik, Dbv
Type: Gene
Species: Mouse
Chromosome: 9
Alteration at locus: Chemically Induced
NCBI: 17918
HGNC: HGNC:7602
Homologene: 20100
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Genetic Alterations
ENU-induced C to T transition at base pair (v38) on Chromosome 9 in the GenBank genomic region NC_000075 encoding the Myo5a gene. The mutation corresponds to residue 2402 in the mRNA sequence NM_010864 within exon 2 of 17 total exons. The mutation results in an arginine (R) to cysteine (C) substitution at amino acid 659 in the MYO5A protein.

Strain Description

Phenotype

Homozygous: Mice have a gray coat. Themice also have a neurological phenotype in that they have trouble righting themselves and exhibit opisthotonus.

Heterozygous: No abnormal phenotype detected.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
Strain Development
Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.
Suggested Control Mice
Wild-type littermates or C57BL/6J mice

MMRRC Genetic QC

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact . Older strains may not have this information.

Research Applications

  • Models for Human Disease
    • Griscelli syndrome type I (OMIM #214450)
  • Neurobiology
  • Cell Biology

Strain Origin

Primary Reference

Dismang A, Purrington T, Murray AR, Beutler B. Record for naoki. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.

Colony and Husbandry Information

Health Status Report

For more information about this colony's health status contact

Appearance

Coat Color
Black

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Unknown Unknown

Order Request Information

Availability Level

The availability level for this product has not been determined.

Conditions of Distribution

The donor or their institution limits the distribution to non-profit institutions only.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Fees

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