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 | |
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. |
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 | |
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Examination Date / Room / Rack |
Gene | |||||||
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Gene Symbol | Gene Name | Chr. | Allele Symbol | Allele Name | Common Names | Promoter | Diseases Related to This Gene |
Gdf5 | growth differentiation factor 5 | 2 | Gdf5 | RIKEN Genomic Sciences Center (GSC), 451 |
Phenotype | |
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Annotation by Mammalian phenotyhpe ontology | more 4 phenotypes |
Detailed phenotype data |
Ordering Information | |
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Donor DNA | |
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 Frozen sperm |
Strain Availability | Recovered litters from cryopreserved embryos (2 to 4 months) Cryopreserved sperm (within 1 month) Cryopreserved embryos (within 1 month) |
Additional Info. | Necessary documents for ordering:
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 |