|Former Common name|
|ES Cell line|
|Appearance||severe brachypodism, ankylosis of the knee joint, and malformation with early-onset OA of the elbow joint [homozygotes]|
brachypodism and ankylosis [heterozygotes]
|Strain description||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.|
|References||Hum. Mol. Genet., 16, 2366-2375 (2007). 17656374|
|Examination Date / Room / Rack||null|
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
|Research application||Mouse Models for Human Disease|
|Specific Term and Conditions||The 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.
|Depositor||RIKEN GSC (RIKEN GSC)|
|Strain Status||Frozen embryos|
|Strain Availability||Recovered litters from cryopreserved embryos (2 to 4 months)|
Cryopreserved sperm (within 1 month)
Cryopreserved embryos (within 1 month)
|Additional Info.||Mouse of the Month Sep 2007|
Necessary documents for ordering:
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