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 +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Pfas | phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Pfas, phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) |
Gene Synonym(s) | |
Strain of Origin | B6(AKR)-ApcMin/J |
Chromosome | 11 |
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Sofa |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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