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 development2002年、桝屋、若菜、城石、理研ＧＳＣマウスゲノムM2:DBA/2J x G1
Strain descriptionHeterozygotes showed abnormal curvature in tarsal area of hind limbs with shortening of the digits 2, 3 and 4. Thickening of fingers in fore limb. [Modified-SHIRPA, Q43~46=4, Q51=4]Masuya et al (2007) reported that causative gene of this mutant is Gdf5. This allele carries an amino acid substitution (W408R) in a highly conserved region of the active signaling domain of the GDF5 protein. The mutation is semidominant, showing brachypodism and ankylosis in heterozygotes, and much more severe brachypodism, ankylosis of the knee joint, and malformation with early-onset OA of the elbow joint in homozygotes. The mutant GDF5 protein is secreted and dimerizes normally, but inhibits the function of the wild-type GDF5 protein in a dominant-negative fashion.
Colony maintenanceBackcross to　DBA/2J形態の異常・奇形がある
References
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
Hiroshi Masuya, Keiichiro Nishida, Tatsuya Furuichi, Hideaki Toki, Gen Nishimura, Hidehiko Kawabata, Haruka Yokoyama, Aki Yoshida, Sayaka Tominaga, Junko Nagano, Aya Shimizu, Shigeharu Wakana, Yoichi Gondo, Tetsuo Noda, Toshihiko Shiroishi, Shiro Ikegawa
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
Gdf5
MGI:95688		growth differentiation factor 52Gdf5<Rgsc451>
MGI:3699319		RIKEN Genomic Sciences Center (GSC), 451
  • acromesomelic dysplasia 2A(DisGeNET, MedGEN)

  • acromesomelic dysplasia 2B(DisGeNET, MedGEN)

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

  • brachydactyly type A2(DisGeNET, MedGEN)

  • brachydactyly type C(DisGeNET, MedGEN)

  • multiple synostoses syndrome 2(DisGeNET, MedGEN)

  • osteoarthritis susceptibility 5(MedGEN)

  • symphalangism, proximal, 1B(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype 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

    供与核酸
    Research applicationMouse Models for Human Disease
    提供条件営利機関の利用者は、別途寄託者に連絡する。
    非営利機関の利用者は、本件リソースを利用して研究過程において得られた発明及び成果物について特許申請及び第三者と使用料ライセンス契約を行う場合、利用者は事前に理研BRCに連絡の上、両者で、発明者、所有権、特許出願、ライセンス料等の取扱いについて、実施に先立って協議するものとする。
    DepositorRIKEN GSC（独立行政法人理化学研究所）
    Strain Status凍結胚のアイコン凍結胚
    凍結精子のアイコン凍結精子
    Strain Availability凍結胚より作出したマウスを2~4ヶ月以内に提供可能
    凍結精子を1ヶ月以内に提供可能
    凍結胚を1ヶ月以内に提供可能
    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