Lcat^tm1Nsa
Targeted Allele Detail

Summary

• Symbol: Lcat^tm1Nsa
• Name: lecithin cholesterol acyltransferase; targeted mutation 1, Naohiko Sakai
• MGI ID: MGI:2445879
• Synonyms: LCAT-
• Gene: Lcat Location: Chr8:106666183-106670014 bp, - strand Genetic Position: Chr8, 53.06 cM
• Alliance: Lcat^tm1Nsa page

Renal lesions in Lcat^tm1Nsa/Lcat^tm1Nsa mice on a high fat/high cholesterol diet for 16 weeks

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:39237
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 2 through 5 were replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded amino acids 28 through 216, including serine 181 which has been implicated in the initial hydrolysis of phosphatidylcholine. Transcript was undetected by Northern blot analysis of homozygous mutant mice. Biochemical assays, including those of cholesterol esterification rate (CER), indicated a complete deficiency of alpha- and beta-lecithin cholesterol acyltransferase activity in homozygous mutant mice. A 70% reduction was observed in heterozygotes. (J:39237)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lcat Mutation: 25 strains or lines available

References

• Original: J:39237 Sakai N, et al., Targeted disruption of the mouse lecithin:cholesterol acyltransferase (LCAT) gene. Generation of a new animal model for human LCAT deficiency. J Biol Chem. 1997 Mar 14;272(11):7506-10
• All: 11 reference(s)