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 +
Heterozygotes have craniofacial defects including a short snout and approximately 80% also display a white belly spot, which can range from a few white hairs to a large white patch.
The short face 2 Jackson mutation arose spontaneously at The Jackson Laboartory in 2008 in the B6.Cg-Lepob/J strain. A mutant male was backcrossed to C57BL/6J and the mutant subline was subsequently maintained by sibling inbreeding a dominant heterozygote of either sex with a wildtype sibling at each generation. The obese mutation has been bred out of this mutant subline. Sperm was cryopreserved from heterozygous males in 2009.
|Allele Name||short face 2 Jackson|
|Allele Synonym(s)||Shn; short nose|
|Gene Symbol and Name||Pfas, phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)|
|Strain of Origin||B6.Cg-Lepob/J|
|Molecular Note||A spontaneous C-to-T substitution (G-to-A on negative gene strand) on chromosome 11 position 69,000,590 (GRCm38), destroys exon 7 splice acceptor site CAG by changing it to CAA, which is predicted to result in the total loss of exon 7, leading to the loss of amino acids 228-274 in the AIR synthase-related region of the PurM-like domain.|
When using the short face 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #011079 in your Materials and Methods section.