B6(Cg)-Pfas^Sofa-2J/GrsrJ

Stock number: 011079
Product name: short face 2 Jackson
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

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.

Development

The short face 2 Jackson mutation arose spontaneously at The Jackson Laboartory in 2008 in the B6.Cg-Lep^ob/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

Symbol: Pfas^Sofa-2J
Name: short face 2 Jackson
MGI accession ID: MGI:5476717
Generation method: Spontaneous
Synonyms: Shn; short nose
Marker symbol: Pfas
Marker name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Marker synonyms: 4432409B16Rik; FGAMS; FGARAT; FGAR-AT; GATD8; PURL; Sofa
Chromosome: 11
Strain of origin: B6.Cg-Lep^ob/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.