Ass1^bar
Spontaneous Allele Detail

Summary

• Symbol: Ass1^bar
• Name: argininosuccinate synthetase 1; barthez
• MGI ID: MGI:4838083
• Gene: Ass1 Location: Chr2:31360282-31410682 bp, + strand Genetic Position: Chr2, 21.81 cM
• Alliance: Ass1^bar page

Mutation origin

• Strain of Origin: OF1

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A C to T transition in exon 12 results in an arginine to cysteine (R265C) substitution, producing a hypomoph. Measurement of RNA by quantitative real-time PCR, and protein by Western Blot and Immunohistochemistry showed no changes in level compared to wild-type. (J:165341)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ass1 Mutation: 56 strains or lines available

References

• Original: J:165341 Perez CJ, et al., Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. Am J Pathol. 2010 Oct;177(4):1958-68
• All: 1 reference(s)