Strain Data Sheet

RBRC-GSC0080

Information1

Image
BRC No.RBRC-GSC0080
TypeChemically-induced Mutation
SpeciesMus musculus
Strain nameM100451
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearancesevere brachypodism, ankylosis of the knee joint, and malformation with early-onset OA of the elbow joint [homozygotes]
brachypodism and ankylosis [heterozygotes]
Strain development
Strain descriptionThis 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
ReferencesHum. Mol. Genet., 16, 2366-2375 (2007). 17656374

Health Report

Examination Date / Room / Racknull

Gene

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

Information2

Donor DNA
Research applicationMouse Models for Human Disease
Specific Term and ConditionsThe 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.
DepositorRIKEN GSC (RIKEN GSC)
Strain Statusan icon for Frozen embryosFrozen embryos
an icon for Frozen spermFrozen sperm
Strain AvailabilityRecovered 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:
  1. Order form (Japanese / English)
  2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

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