Cps1^tm1Mw
Targeted Allele Detail

Summary

• Symbol: Cps1^tm1Mw
• Name: carbamoyl-phosphate synthetase 1; targeted mutation 1, Maki Wakamiya
• MGI ID: MGI:2386969
• Synonyms: CPSase (-)
• Gene: Cps1 Location: Chr1:67162185-67270418 bp, + strand Genetic Position: Chr1, 33.75 cM, cytoband C3
• Alliance: Cps1^tm1Mw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:52334
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Cps1 Mutation: 108 strains or lines available

References

• 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)