Strain Data Sheet

RBRC02978

Strain Information

Image
BRC No.RBRC02978
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameC57BL/6J-Myo5a<d-n>/Nem
Former Common namedilute-neurological
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Nancy Jenkins, NCI-Fredrick. The mice were introduced into Research Institute of Environmental Medicine, Nagoya University and maintained by Yoshiko Takagishi.
Strain description
Colony maintenance
References
Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations.
Huang J D, Mermall V, Strobel M C, Russell L B, Mooseker M S, Copeland N G, Jenkins N A
Genetics, 148, 1963-1972 (1998). 9560409

Diminished climbing fiber innervation of Purkinje cells in the cerebellum of myosin Va mutant mice and rats.
Takagishi Y, Hashimoto K, Kayahara T, Watanabe M, Otsuka H, Mizoguchi A, Kano M, Murata Y
Dev. Neurobiol., 67, 909-923 (2007). 17506494

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Myo5a
MGI:105976		myosin VA9Myo5a<d-n>
MGI:1856008		dilute neurological
  • Griscelli syndrome type 1(DisGeNET, MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal Purkinje cell dendrite morphology(MP:0008572)

  • abnormal cerebellum morphology(MP:0000849)

  • abnormal coat/hair pigmentation(MP:0002075)

  • abnormal eye blink conditioning behavior(MP:0002807)

  • abnormal gait(MP:0001406)
    • more 9 phenotypes
  • abnormal locomotor coordination(MP:0003312)

  • abnormal motor capabilities/coordination/movement(MP:0002066)

  • ataxia(MP:0001393)

  • behavior/neurological phenotype(MP:0005386)

  • clonic seizures(MP:0003996)

  • diluted coat color(MP:0000371)

  • impaired coordination(MP:0001405)

  • reduced long-term depression(MP:0001475)

  • slow postnatal weight gain(MP:0008489)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    Specific Term and ConditionsNo specific terms and conditions. (The DEPOSITOR waives its own rights under any patents, intellectual property, or other proprietary rights with respect to the results to be obtained by use of the BIOLOGICAL RESOURCE.)
    DepositorYoshiko Takagishi (Nagoya University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Cryopreserved embryos (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data