B6(AKR)-Pfas^Sofa/GrsrJ

Stock number: 004235
Product name: short face
Research areas: Developmental Biology Research

Description

The Pfas^Sofa 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.

Detailed description

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.

Development

The Sofa mutation arose spontaneously in the B6(AKR)-Apc^Min/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 Apc^Min mutation has been confirmed twice.

Allele

Symbol: Pfas^Sofa
Name: short face
MGI accession ID: MGI:3717451
Generation method: Spontaneous
Marker symbol: Pfas
Marker name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Chromosome: 11
Strain of origin: B6(AKR)-Apc^Min/J
Molecular note: This spontaneous mutation was found to be a 15 base pair deletion in exon 7.