Strain Data Sheet

RBRC-GSC0080

Strain Information

Image
BRC No.RBRC-GSC0080
TypeChemically-induced Mutation
SpeciesMus musculus
Strain nameM100451
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearancebrachypodism and ankylosis [heterozygotes]
severe brachypodism, ankylosis of the knee joint, and malformation with early-onset OA of the elbow joint [homozygotes]
Strain development
Strain descriptionThis mutant strain carries an allele of Gdf5 gene, Gdf5<Rgsc451>, which causes an amino acid substitution (W408R) in a highly conserved region of the active signaling domain of the GDF5 protein.
Colony maintenance
References
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
Masuya H, Nishida K, Furuichi T, Toki H, Nishimura G, Kawabata H, Yokoyama H, Yoshida A, Tominaga S, Nagano J, Shimizu A, Wakana S, Gondo Y, Noda T, Shiroishi T, Ikegawa S
Hum. Mol. Genet., 16, 2366-2375 (2007). 17656374

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Gdf5growth differentiation factor 52Gdf5RIKEN Genomic Sciences Center (GSC), 451
  • acromesomelic dysplasia 2A(DisGeNET, MedGEN)

  • acromesomelic dysplasia 2B(DisGeNET, MedGEN)

  • acromesomelic dysplasia 2C, Hunter-Thompson type(MedGEN)
  • more 6 Diseases
  • brachydactyly type A1C(DisGeNET, MedGEN)

  • brachydactyly type A2(MedGEN)

  • brachydactyly type C(DisGeNET, MedGEN)

  • multiple synostoses syndrome 2(DisGeNET, MedGEN)

  • osteoarthritis susceptibility 5(MedGEN)

  • symphalangism, proximal, 1B(MedGEN)
  • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal articular cartilage morphology(MP:0006433)

  • abnormal cartilage morphology(MP:0000163)

  • abnormal long bone epiphyseal plate morphology(MP:0003055)

  • abnormal long bone epiphysis morphology(MP:0000131)

  • abnormal phalanx morphology(MP:0005306)
  • more 4 phenotypes
  • brachypodia(MP:0002772)

  • decreased chondrocyte number(MP:0000167)

  • decreased length of long bones(MP:0004686)

  • fused joints(MP:0003189)
  • Detailed phenotype dataPhenopub Link

    Ordering Information

    Donor DNA
    Research applicationMouse Models for Human Disease
    Specific Term and ConditionsThe RECIPIENT of for-profit institution must contact the DEPOSITOR separately.
    The RECIPIENT of not for-profit institution must contact and discuss in good faith with the DEPOSITOR regarding inventorship, ownership, patent filing and licese fees and others, prior to filing a patent or make a contract with license fees with a third party for invention or products obtained from research results by using the BIOLOGICAL RESOURCES.
    DepositorRIKEN GSC (RIKEN GSC)
    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)

    Mouse of the Month Sep 2007

    BRC mice in Publications

    Hinoi E, Iezaki T, Fujita H, Watanabe T, Odaka Y, Ozaki K, Yoneda Y.
    PI3K/Akt is involved in brown adipogenesis mediated by growth differentiation factor-5 in association with activation of the Smad pathway.
    Biochem Biophys Res Commun 450(1) 255-60(2014) 24944017
    Hinoi E, Nakamura Y, Takada S, Fujita H, Iezaki T, Hashizume S, Takahashi S, Odaka Y, Watanabe T, Yoneda Y.
    Growth differentiation factor-5 promotes brown adipogenesis in systemic energy expenditure.
    Diabetes 63(1) 162-75(2014) 24062245
    Masuya H, Nishida K, Furuichi T, Toki H, Nishimura G, Kawabata H, Yokoyama H, Yoshida A, Tominaga S, Nagano J, Shimizu A, Wakana S, Gondo Y, Noda T, Shiroishi T, Ikegawa S.
    A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
    Hum Mol Genet 16(19) 2366-75(2007) 17656374