B6(129S7)-Pfas^Sofa-3J/GrsrJ

Stock number: 022522
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

Short face 3 Jackson heterozygotes have craniofacial defects, most notably short noses. Some have a white belly spot or tail tip, but these phenotypes have incomplete penetrance. PIXImus densitometric measurements of body composition at 12 weeks of age showed decreased whole body fat and percent fat in females, but not males, and body weights taken after 5 weeks of age until 13 weeks of age show a slight reduction in body mass in both female and male heterozygotes compared with wild type sibling controls. Heterozygotes are viable and fertile.

Development

The short face 3 Jackson mutation arose spontaneously in the B6.129S7-Rag1^tm1Mom/J strain at The Jackson Laboratory. The Rag1^tm1Mom allele was bred out of this mutant subline and sperm was cryopreserved from Pfas^Sofa-3J heterozygous males.

Allele

Symbol: Pfas^Sofa-3J
Name: short face 3 Jackson
MGI accession ID: MGI:5514227
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Pfas
Marker name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Marker synonyms: 4432409B16Rik; FGAMS; FGARAT; FGAR-AT; GATD8; PURL; Sofa
Chromosome: 11
Strain of origin: B6.129S7-Rag1^tm1Mom/J
Molecular note: A spontaneous 4 base pair deletion of chromosome 11:68,988,478-82 bp (GRCm38) in exon 27 leads to a frameshift and premature stop codon.