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)|
|Gene Synonym(s)||4432409B16Rik; 4432409B16Rik; FGAMS; FGAR-AT; FGARAT; Gm18; PURL; RIKEN cDNA 4432409B16 gene; Sofa; Sofa; gene model 18, (NCBI); short face|
|Strain of Origin||B6(AKR)-Apc |
|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.
|Please inquire about possible genotypes.|
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
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