| First Author | Harris BS | Year | 2015 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:226157 |
| Mgi Id | MGI:5695864 | Citation | Harris BS, et al. (2015) brachypodism 6 Jackson. MGI Direct Data Submission |
| abstractText | The brachypodism 6 Jackson mutation arose spontaneously in the DBA/2J inbred strain. A mapping cross using 129S1/SvImJ mapped this mutation to Chromosome 2 between positions 106,247,400 bp and 164,961,358 bp (GRCm38) and a 2 base pair insertion of CC was found between Chromosome 2 position 155,944,953 bp, and 155,944,952 bp in Gdf5 exon 1 (GRCm38), changing the sequence from GAACCCCAGG to GAACCCCCCAGG. This is predicted to alter the amino acid sequence beginning at amino acid 37. Similar to other recessive alleles of Gdf5, homozygotes 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. |
