These mice carry the semidominant mutant dactylaplasia (Dac) that disrupts the maintenance of the apical ectodermal ridge, leading to truncation of distal structures of the developing footplate, or autopod. Adult homozygotes lack hands and feet except for malformed single digits, whereas heterozygotes lack phalanges of the three middle digits. Dac resembles the human autosomal dominant split hand/foot malformation (SHFM) diseases. One of these, SHFM3, maps to chromosome 10q24, which is syntenic to the Dac region on chromosome 19, and may disrupt the orthologue of Dac. Positional cloning of Dac shows that it belongs to the F-box/WD40 gene family, which encodes adapters that target specific proteins for destruction by presenting them to the ubiquitination machinery. [Sidow A, et al., Nat Genet. 1999 Sep;23(1):104-7]
|Allele Name||dactylaplasia 2 Jackson|
|Gene Symbol and Name||Fbxw4, F-box and WD-40 domain protein 4|
|Strain of Origin||MRL/MpJ|
|Molecular Note||This mutation has been characterized as a MusD family transposon insertion 7471 nucleotides long within a highly conserved region in intron 5.|
When using the dactylaplasia 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #002766 in your Materials and Methods section.