Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	PfasSofa-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:	PfasSofa-4J page

Strain of Origin:

C57BL/6J

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

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

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)