Pfas^Sofa-2J
Spontaneous Allele Detail

Summary

• Symbol: Pfas^Sofa-2J
• Name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face 2 Jackson
• MGI ID: MGI:5476717
• Synonyms: Shn, short nose
• Gene: Pfas Location: Chr11:68876527-68899286 bp, - strand Genetic Position: Chr11, 42.26 cM
• Alliance: Pfas^Sofa-2J page

White belly spot on the Pfas^Sofa-2J/Pfas⁺ (right) mouse compared to wild-type (left)

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: B6.Cg-Lep^ob/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:194958, J:222308)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pfas Mutation: 98 strains or lines available

References

• Original: J:194958 Curtain MM, et al., A new spontaneous short snout mutation in Pfas. MGI Direct Data Submission. 2013
• All: 3 reference(s)