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| Nomenclature |
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Symbol:
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Ldlrtm1Her
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Name:
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low density lipoprotein receptor;
targeted mutation 1, Joachim Herz
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MGI ID: |
MGI:1857212 |
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Synonyms: |
LDLR-, LDLr0, LDLrKO, LDLr-KO, LDLR KO, Ldlrtm1Her |
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Gene:
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Ldlr
Location:
Chr9:21723576-21749916 bp, + strand
Genetic Position: Chr9,
7.87 cM
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Phenotype of aortic arch atherosclerotic lesions in Tbx21tm1Glm/Tbx21tm1Glm Ldlrtm1Her/Ldlrtm1Her and Ldlrtm1Her/Ldlrtm1Her mice
Show the 7 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:37394
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: Insertion of a neomycin resistance cassette into exon 4. The authors predict that the targeted allele would encode a truncated non-functional protein that will not bind LDL, and that lacks a membrane spanning segment. Immunoblot analysis of liver membranes detected a truncated protein in homozygous mutant animals. (J:37394)
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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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Notes |
When used in bone marrow transplant into Ldlrtm1Her homozygous mice, Abca1tm1Jdm Abcg1tm1Dgen homozygous cells accelerate the development of atherosclerosis. (J:130777)
Phenotypic Similarity to Human Syndrome: Type 1 Diabetic Macrovascular Disease (J:174983)
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| References |
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Original: |
J:37394
Ishibashi S et al.,
"Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery [see comments]"
J Clin Invest 1993 Aug;92(2):883-93
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All: |
640 reference(s)
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Analysis Tools
