Pfas^Sofa-4J
Chemically induced Allele Detail

Summary

• Symbol: Pfas^Sofa-4J
• Name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face 4 Jackson
• MGI ID: MGI:5514246
• Gene: Pfas Location: Chr11:68876527-68899286 bp, - strand Genetic Position: Chr11, 42.26 cM
• Alliance: Pfas^Sofa-4J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced A to T transversion at chromosome 11:68,991,894 (GRCm38) results in a methionine to lysine missense mutation at codon 807 (p.M807K). (J:222308, J:223062)
• 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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
• All: 2 reference(s)