B6 x BALB/cJ-Gdf5^bp-3J/J

Stock number: 002239
Product name: brachypodism 3 Jackson
Research areas: Developmental Biology Research, Mouse/Human Gene Homologs

Detailed description

Mutations in Gdf5 can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles.

Allele

Symbol: Gdf5^bp-3J
Name: brachypodism 3 Jackson
MGI accession ID: MGI:1856340
Generation method: Spontaneous
Marker symbol: Gdf5
Marker name: growth differentiation factor 5
Marker synonyms: BDA1C; BMP14; BMP-14; bp; brp; cartilage-derived morphogenetic protein-1; Cdmp1; CDMP-1; DUPANS; LAP4; LAP-4; OS5; SYM1B; SYNS2
Chromosome: 2
Strain of origin: BALB/cJ
Molecular note: A CG dinucleotide was replaced by a single base pair (T) at position 876, causing a frame shift and a translational stop at the next codon.
General note: The long bones of the limbs of mutant mice are slightly shorter than controls, and the fibula is shortened proximally. The bones of the axial skeleton are unaffected.