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| Nomenclature |
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Symbol:
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Lpltm1Bres
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Name:
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lipoprotein lipase;
targeted mutation 1, Jan L Breslow
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MGI ID: |
MGI:2651805 |
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Synonyms: |
L1, LPL- |
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Gene:
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Lpl
Location:
Chr8:68880491-68907448 bp, + strand
Genetic Position: Chr8,
33.88 cM
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Gross pathology of Lpltm1Bres/Lpltm1Bres pups at 14-16 hours after birth
Show the 5 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:30062
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Sequence encompassing a portion of exon 1, including the start codon and signal sequence, and all of exon 2 was replaced with a neomycin selection cassette inserted by homologous recombination. Lipoprotein lipase activity was shown to be almost completely ablated in homozygous mutant mice. (J:30062)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Lpl Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:30062
Weinstock PH et al.,
"Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes."
J Clin Invest 1995 Dec;96(6):2555-68
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All: |
22 reference(s)
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