Pfas^Sofa-5J
Spontaneous Allele Detail

Summary

• Symbol: Pfas^Sofa-5J
• Name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase); short face 5 Jackson
• MGI ID: MGI:5514248
• Gene: Pfas Location: Chr11:68876527-68899286 bp, - strand Genetic Position: Chr11, 42.26 cM
• Alliance: Pfas^Sofa-5J page

Mutation origin

• Strain of Origin: B6.129S1-Il12a^tm1Jm/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: This allele has a spontaneous insertion (duplication) of a C in the CCCCC sequence between chromosome 11 positions 68,988,141-45 (GRCm38), which is in exon 28. This leads to a frameshift and premature stop codon. (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: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)