Pfas^Sofa
Spontaneous Allele Detail

Summary

• Symbol: Pfas^Sofa
• Name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face
• MGI ID: MGI:3717451
• Gene: Pfas Location: Chr11:68876527-68899286 bp, - strand Genetic Position: Chr11, 42.26 cM
• Alliance: Pfas^Sofa page

Domed cranium, short snout, and ocular hypertelorism in Pfas^Sofa/Pfas⁺ (left) mice compared to control (right)

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

Mutation origin

• Strain of Origin: B6(AKR)-Apc^Min/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• This spontaneous mutation was found to be a 15 base pair deletion in exon 7. (J:176116, J:222308, J:223062)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

8 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: 96 strains or lines available

References

• Original: J:125614 Curtain MM, et al., A short face mutation on Chromosome 11. MGI Direct Data Submission. 2007
• All: 4 reference(s)