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

Symbol:	PfasSofa-3J
Name:	phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face 3 Jackson
MGI ID:	MGI:5514227
Gene:	Pfas  Location: Chr11:68876527-68899286 bp, - strand  Genetic Position: Chr11, 42.26 cM
Alliance:	PfasSofa-3J page

Strain of Origin:

B6.129S7-Rag1tm1Mom/J

Allele Type:    Spontaneous (Null/knockout) Mutation:    Intragenic deletion   Mutation details: A spontaneous 4 base pair deletion of chromosome 11:68,988,478-82 bp (GRCm38) in exon 27 leads to a frameshift and premature stop codon. (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: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)