This dominant point mutation provides a model for the study of developmental abnormalities involved in Hunter-Thomson type acromesomelic dysplasia, multiple synostoses syndrome 2, Du Pan syndrome, Grebe type chondroplasia, proximal symphalangism 1B, and brachydactyly.Read More +
Mice heterozygous for the brachypodism 5 Jackson mutation have disproportionate dwarfing with shortened and malformed digits, shortened limbs, underdeveloped feet and normal body length. Male and female heterozygotes are fertile. Most mouse Gdf5 mutations are recessive, but brachypodism 5 Jackson is dominant or semi-dominant.
The brachypodism 5 Jackson mutation arose spontaneously on the C57BL/6J background at The Jackson Laboratory in 2011. This mutant subline has been maintained by sibling inbreeding heterozygotes with wild-type siblings and in 2013 reached generation F3.
|Allele Name||brachypodism 5 Jackson|
|Gene Symbol and Name||Gdf5, growth differentiation factor 5|
|Strain of Origin||C57BL/6J|
|Molecular Note||A spontaneous T-to-A transversion in chromosome 2 position 155,941,581 (GRCm38) yields a tyrosine to asparagine substitution at amino acid 484 (p.Y484N).|