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) |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | Shn; short nose |
Gene Symbol and Name | Pfas, phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) |
Gene Synonym(s) | |
Strain of Origin | B6.Cg-Lepob/J |
Chromosome | 11 |
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Pfas<Sofa-2J> |
Frozen Mouse Embryo | B6(Cg)-Pfas<Sofa-2J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | B6(Cg)-Pfas<Sofa-2J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | B6(Cg)-Pfas<Sofa-2J>/GrsrJ | $3373.50 |
Frozen Mouse Embryo | B6(Cg)-Pfas<Sofa-2J>/GrsrJ | $3373.50 |
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