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| Nomenclature |
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Symbol:
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Cps1tm1Mw
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Name:
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carbamoyl-phosphate synthetase 1;
targeted mutation 1, Maki Wakamiya
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MGI ID: |
MGI:2386969 |
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Synonyms: |
CPSase (-) |
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Gene:
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Cps1
Location:
Chr1:67123026-67231259 bp, + strand
Genetic Position: Chr1,
33.75 cM, cytoband C3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:52334
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A PGK-neo selection cassette was inserted into exon 17, which encodes an ATP binding domain, via homologous recombination. Enzyme activity was undetected in liver extracts obtained from homozygous mutant mice, indicating a complete functional ablation of the targeted locus. Furthermore, transcript was undetected by RT-PCR analysis of total liver RNA. (J:52334)
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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 Cps1 Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:52334
Schofield JP et al.,
"Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia."
Hepatology 1999 Jan;29(1):181-5
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All: |
2 reference(s)
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Analysis Tools
