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Spontaneous Allele Detail
Symbol: PfasSofa-2J
Name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face 2 Jackson
MGI ID: MGI:5476717
Synonyms: Shn, short nose
Gene: Pfas  Location: Chr11:68985701-69008460 bp, - strand  Genetic Position: Chr11, 42.26 cM
White belly spot on the PfasSofa-2J/Pfas+ (right) mouse compared to wild-type (left)

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

Strain of Origin:  B6.Cg-Lepob/J
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsA spontaneous C-to-T substitution (G-to-A on negative gene strand) on chromosome 11 position 69,000,590 (GRCm38), destroys exon 7 splice acceptor site CAG by changing it to CAA, which is predicted to result in the total loss of exon 7, leading to the loss of amino acids 228-274 in the AIR synthase-related region of the PurM-like domain. (J:194958, J:222308)
Inheritance:    Semidominant
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 9 anatomical structures
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:  34 strains or lines available
Original:  J:194958 Curtain MM, et al., A new spontaneous short snout mutation in Pfas. MGI Direct Data Submission. 2013;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
The Jackson Laboratory