DBA/2J-Gdf5^bp-6J/GrsrJ

Stock number: 026959
Research areas: Developmental Biology Research, Internal/Organ Research

Description

Mice homozygous for the brachypodism 6 Jackson mutation have a skeletal phenotype of shortened limbs and malformed, shortened feet with very short digits. All four limbs and feet are affected.

Detailed description

Mice homozygous for the brachypodism 6 Jackson mutation have a skeletal phenotype of shortened limbs and malformed, shortened feet with very short digits. All four limbs and feet are affected. Heterozygotes appear normal, homozygotes of both sexes are fertile.

Development

The brachypodism 6 Jackson mutation arose spontaneously in the DBA/2J inbred strain and has been maintained coisogenic on this background. Sperm was cryopreserved from homozygous males.

Allele

Symbol: Gdf5^bp-6J
Name: brachypodism 6 Jackson
MGI accession ID: MGI:5695012
Generation method: Spontaneous
Attributes: Not Specified
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: DBA/2J
Molecular note: This is a spontaneous 2 base pair insertion, CC, between Chromosome 2 position 155,944,953 bp, and 155,944,952 bp in exon 1 (GRCm38) changing the sequence from GAACCCCAGG to GAACCCCCCAGG, which is predicted to alter the amino acid sequence beginning at amino acid 37.