Pfas<Sofa> Spontaneous Allele Detail MGI Mouse (MGI:3717451)

Pfas^Sofa
Spontaneous Allele Detail

Summary

Symbol:	Pfas^Sofa
Name:	phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face
MGI ID:	MGI:3717451
Gene:	Pfas Location: Chr11:68876527-68899286 bp, - strand Genetic Position: Chr11, 42.26 cM
Alliance:	Pfas^Sofa page

Domed cranium, short snout, and ocular hypertelorism in Pfas^Sofa/Pfas⁺ (left) mice compared to control (right)

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

Mutation
origin

Strain of Origin:

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		This spontaneous mutation was found to be a 15 base pair deletion in exon 7. (J:176116, J:222308, J:223062)
Inheritance:		Dominant

Phenotypes

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

Expression

In Structures Affected by this Mutation:

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:125614 Curtain MM, et al., A short face mutation on Chromosome 11. MGI Direct Data Submission. 2007;
All:	4 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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