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Targeted Allele Detail
Symbol: Cps1tm1Mw
Name: carbamoyl-phosphate synthetase 1; targeted mutation 1, Maki Wakamiya
MGI ID: MGI:2386969
Synonyms: CPSase (-)
Gene: Cps1  Location: Chr1:67123026-67231259 bp, + strand  Genetic Position: Chr1, 33.75 cM, cytoband C3
Germline Transmission:  Earliest citation of germline transmission: J:52334
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 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 Cps1 Mutation:  0 strains or lines available
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory