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| Nomenclature |
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Symbol:
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Ass1bar
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Name:
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argininosuccinate synthetase 1;
barthez
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MGI ID: |
MGI:4838083 |
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Gene:
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Ass1
Location:
Chr2:31470207-31520672 bp, + strand
Genetic Position: Chr2,
21.81 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ass1 Mutation:
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24 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
