The PfasSofa semidominant allelic series on the C57BL/6J background all cause a short snout and related craniofacial defects, along with variably penetrant phenotypes of white belly spot and tail tip.Read More +
The short face mutation is lethal in homozygotes and has varying penetrance in heterozygous carriers, which can be phenotypically undetectable or can display a short, upturned nose, domed skull, and wide-set eyes. Heterozygotes often have a white belly spot or white tail tip but these phenotypes have incomplete penetrance.
The Sofa mutation arose spontaneously in the B6(AKR)-ApcMin/J strain at The Jackson Laboratory in 2000 when that strain was at generation N47. The mutant subline was backcrossed once to C57BL/6J and thereafter maintained by sibling intercrossing phenotypic wildtype with phenotypic carriers of this dominant mutation. The absence of the ApcMin mutation has been confirmed twice.
|Allele Name||short face|
|Gene Symbol and Name||Pfas, phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)|
|Strain of Origin||B6(AKR)-ApcMin/J|
|Molecular Note||This spontaneous mutation was found to be a 15 base pair deletion in exon 7.|
Although dominant, the Sofa mutation has varied penetrance. This strain is maintained by intercrossing phenotypic heterozygotes with unaffected siblings presumed to be +/+, but potentially low penetrance carriers.
When using the short face mouse strain in a publication, please cite the originating article(s) and include JAX stock #004235 in your Materials and Methods section.