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Ass1bar
Spontaneous Allele Detail
Nomenclature
Symbol: Ass1bar
Name: argininosuccinate synthetase 1; barthez
MGI ID: MGI:4838083
Gene: Ass1  Location: Chr2:31470207-31520672 bp, + strand  Genetic Position: Chr2, 21.81 cM
Mutation
origin
Strain of Origin:  OF1
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA C to T transition in exon 12 results in an arginine for 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 10 anatomical structures
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:  25 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory