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 / Rack2009/11/09Room:4-5Rack:D
2009/09/07Room:4-5Rack:D
2009/07/06Room:4-5Rack:D
2009/05/12Room:4-5Rack:D
2009/05/11Room:4-5Rack:D
2009/03/09Room:4-5Rack:D
2009/01/13Room:4-5Rack:D

Gene

Gene info
Gene symbolGene nameChr.Allele symbolAllele namePromoter
Gdf5growth differentiation factor 52Gdf5<Rgsc451>RIKEN Genomic Sciences Center (GSC), 451

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.Genotyping protocol -PCR-
Mouse of the Month Sep 2007

BRC mice in Publications

No Data