Strain Data Sheet

RBRC09617

Strain Information

Image
BRC No.RBRC09617
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameC3H-Atp7a<Mo-ml>
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentEstablished in 1973. C3Hf background. Phenotypes can be alleviated by treating mutants with CuCl2 by postnatal day 6.
Strain descriptionSpontaneous mutant strain to model the Menkes disease (OMIM ID: 309400). The mutation was identified in the Atp7a (Cupper-transporting protein) on the X-chromosome.
Colony maintenanceHeterozygote (female) x wild type [or C3H]
References
The mottled gene is the mouse homologue of the Menkes disease gene.
Levinson B, Vulpe C, Elder B, Martin C, Verley F, Packman S, Gitschier J
Nat Genet., 6(4), 369-373 (1994). 8054976

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Atp7aATPase, Cu++ transporting, alpha polypeptideXAtp7amottled macular
  • Menkes disease(DisGeNET, MedGEN)

  • occipital horn syndrome(MedGEN)

  • X-linked distal spinal muscular atrophy type 3(DisGeNET, MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal coat/hair pigmentation(MP:0002075)

  • abnormal postnatal growth(MP:0001731)

  • abnormal survival(MP:0010769)

  • absent coat pigmentation(MP:0005171)

  • ataxia(MP:0001393)
    • more 5 phenotypes
  • cachexia(MP:0005150)

  • curly vibrissae(MP:0001274)

  • preweaning lethality, incomplete penetrance(MP:0011110)

  • tonic seizures(MP:0002826)

  • variable depigmentation(MP:0010016)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMetabolism Research
    Mouse Models for Human Disease
    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.)
    DepositorHiroko Kodama (Teikyo University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    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