Lpl^tm1Sem
Targeted Allele Detail

Summary

• Symbol: Lpl^tm1Sem
• Name: lipoprotein lipase; targeted mutation 1, Clay F Semenkovich
• MGI ID: MGI:2429315
• Gene: Lpl Location: Chr8:69333207-69359584 bp, + strand Genetic Position: Chr8, 33.88 cM
• Alliance: Lpl^tm1Sem page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:25652
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 8, encoding the COOH-terminal domain that is essential for catalytic activity, was disrupted by the insertion of a neomycin selection cassette. Biochemical assays of heart tissue showed lipoprotein lipase activity to be significantly reduced in heterozygous and essentially absent in homozygous mutant mice. (J:25652)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Lpl Mutation: 43 strains or lines available

References

• Original: J:25652 Coleman T, et al., COOH-terminal disruption of lipoprotein lipase in mice is lethal in homozygotes, but heterozygotes have elevated triglycerides and impaired enzyme activity. J Biol Chem. 1995 May 26;270(21):12518-25
• All: 14 reference(s)