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Lpltm1Sem
Targeted Allele Detail
Nomenclature
Symbol: Lpltm1Sem
Name: lipoprotein lipase; targeted mutation 1, Clay F Semenkovich
MGI ID: MGI:2429315
Gene: Lpl  Location: Chr8:68880491-68907448 bp, + strand  Genetic Position: Chr8, 33.88 cM
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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 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 Lpl Mutation:  24 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory