Pfas^Sofa-6J
Chemically induced Allele Detail

Summary

• Symbol: Pfas^Sofa-6J
• Name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face 6 Jackson
• MGI ID: MGI:5691529
• Gene: Pfas Location: Chr11:68876527-68899286 bp, - strand Genetic Position: Chr11, 42.26 cM
• Alliance: Pfas^Sofa-6J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This A to T transversion at chromosome 11 position 68,998,030 bp (GRCm38) results in a tryptophan to arginine missense mutation at amino acid 364 (p.W364R). (J:223062)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:223062 Palmer K, et al., Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol. 2016 Jul 15;415(2):216-27
• All: 1 reference(s)