This 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. Backcross to　DBA/2J形態の異常・奇形がある 2002年、桝屋、若菜、城石、理研ＧＳＣマウスゲノムM2:DBA/2J x G1 The RECIPIENT of for-profit institution must contact the DEPOSITOR separately.<br>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. Backcross to　DBA/2J 形態の異常・奇形がある This 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. M100451 M100451 <A HREF="https://mus.brc.riken.jp/en/mouse_of_month/sep_2007_mm" target="_blank">Mouse of the Month Sep 2007</A> 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. false 条件を付加する。<br>営利機関の利用者は、別途寄託者に連絡する。<br>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。 Necessary documents for ordering:<ol><li>Order form (<A HREF="https://mus.brc.riken.jp/ja/wp-content/uploads/form/form_4.docx">Japanese</A> / <A HREF="https://mus.brc.riken.jp/en/wp-content/uploads/form/form_b.docx">English</A>)</li><li>Category I MTA: MTA for distribution with RIKEN BRC (<A HREF="https://mus.brc.riken.jp/ja/wp-content/uploads/form/form_5.docx">Japanese</A> / <A HREF="https://mus.brc.riken.jp/en/wp-content/uploads/form/form_c.docx">English</A>)</li></ol> Mouse Models for Human Disease RBRC-GSC0080 RIKEN GSC RIKEN GSC C (3-6 months) C（3〜6か月） 2002年、桝屋、若菜、城石、理研ＧＳＣマウスゲノム M2:DBA/2J x G1 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.