Strain Data Sheet

RBRC04196

Strain Information

Image
BRC No.RBRC04196
TypeChemically-induced Mutation
SpeciesMus musculus
Strain nameB6(D2)-Pla2g6<m1Sein>
Former Common namePla2g6-inad
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Hisahiro Yoshida, RIKEN Research Center for Allergy and Immunology and Ken-ichi Seino, St. Marianna Univesity School of Medicine in 2004.
Strain descriptionHomozygous mutant mice show ataxia at 7-8 wks of age, and die around 16 wks of age.
Colony maintenance
References
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan N V, Westaway S K, Morton J E, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath R C, Simonati A, Schanen C, Johnson C A, Levinson B, Woods C G, Wilmot B, Kramer P, Gitschier J, Maher E R, Hayflick S J
Nat. Genet., 38, 752-754 (2006). 16783378

Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.
Wada H, Yasuda T, Miura I, Watabe K, Sawa C, Kamijuku H, Kojo S, Taniguchi M, Nishino I, Wakana S, Yoshida H, Seino K
Am. J. Pathol., 175, 2257-2263 (2009). 19893029

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Pla2g6
MGI:1859152		phospholipase A2, group VI15Pla2g6<m1Sein>
MGI:4361203		mutation 1, Ken-ichiro Seino
  • autosomal recessive Parkinson disease 14(MedGEN)

  • neurodegeneration with brain iron accumulation 2A(MedGEN)

  • neurodegeneration with brain iron accumulation 2B(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal astrocyte physiology(MP:0008916)

  • abnormal axon morphology(MP:0005404)

  • abnormal brain morphology(MP:0002152)

  • abnormal brain white matter morphology(MP:0008026)

  • abnormal brainstem morphology(MP:0005277)
    • more 14 phenotypes
  • abnormal motor capabilities/coordination/movement(MP:0002066)

  • abnormal motor coordination/balance(MP:0001516)

  • abnormal nervous system morphology(MP:0003632)

  • abnormal spinal cord morphology(MP:0000955)

  • ataxia(MP:0001393)

  • axonal dystrophy(MP:0003225)

  • decreased double-positive T cell number(MP:0005092)

  • decreased grip strength(MP:0010053)

  • hindlimb paralysis(MP:0000755)

  • muscular atrophy(MP:0002269)

  • neurodegeneration(MP:0002229)

  • premature death(MP:0002083)

  • skeletal muscle atrophy(MP:0009417)

  • weight loss(MP:0001263)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMouse Models for Human Disease
    Specific Term and ConditionsPrior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Am J. Pathol., 175, 2257-2263 (2009).In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The availability of the BIOLOGICAL RESOURCE is limited to a RECIPIENT of a not-for profit institution for a not-for-profit research. For use of the BIOLOGICAL RESOURCE by a for-profit institution, the RECIPIENT must reach agreement on terms and conditions of use of it with DEPOSITOR and must obtain a prior written consent from the DEPOSITOR. RECIPIENT must contact the DEPOSITOR, St. Marianna University School of Medicine in the case of application for any patents or commercial use based on the results from the use of the BIOLOGICAL RESOURCE.
    DepositorKen-ichiro Seino (St. Marianna University School of Medicine)
    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)
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data