Strain Data Sheet
RBRC-GSC0080
Strain Information | |
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| Image |  |
| BRC No. | RBRC-GSC0080 |
| Type | Chemically-induced Mutation |
| Species | Mus musculus |
| Strain name | M100451 |
| Former Common name | |
| H-2 Haplotype | |
| ES Cell line | |
| Background strain | |
| Appearance | brachypodism and ankylosis [heterozygotes] severe brachypodism, ankylosis of the knee joint, and malformation with early-onset OA of the elbow joint [homozygotes] |
| Strain development | 2002年、桝屋、若菜、城石、理研ＧＳＣマウスゲノムM2:DBA/2J x G1 |
| Strain description | Heterozygotes 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 maintenance | Backcross to DBA/2J形態の異常・奇形がある |
| References | Hum. Mol. Genet., 16, 2366-2375 (2007). 17656374 |
Health Report | |
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| Examination Date / Room / Rack | |
Gene | |
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| Gene info | Gene symbolGene nameChr.Allele symbolAllele nameCommon namesPromoter Gdf5growth differentiation factor 52Gdf5<Rgsc451>RIKEN Genomic Sciences Center (GSC), 451bp, cartilage-derived morphogenetic protein-1, CDMP-1 |
Ordering Information | |
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| 供与核酸 | |
| Research application | Mouse Models for Human Disease |
| 提供条件 | 条件を付加する。 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。 |
| Depositor | RIKEN GSC（独立行政法人理化学研究所） |
| Strain Status |  凍結胚 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:
Genotyping protocol -PCR- Mouse of the Month Sep 2007 |
BRC mice in Publications |
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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 |