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Targeted Allele Detail
Symbol: Ldlrtm1Her
Name: low density lipoprotein receptor; targeted mutation 1, Joachim Herz
MGI ID: MGI:1857212
Synonyms: LDLR-, LDLr0, LDLrKO, LDLr-KO, LDLR KO, Ldlrtm1Her
Gene: Ldlr  Location: Chr9:21723576-21749916 bp, + strand  Genetic Position: Chr9, 7.87 cM
Phenotype of aortic arch atherosclerotic lesions in Tbx21tm1Glm/Tbx21tm1Glm Ldlrtm1Her/Ldlrtm1Her and Ldlrtm1Her/Ldlrtm1Her mice

Show the 9 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:37394
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsInsertion 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 18 strains available      Cell Lines: 0 lines available
Carrying any Ldlr Mutation:  46 strains or lines available
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.

Phenotypic Similarity to Human Syndrome: Atherosclerosis, Susceptibility to J:29950, J:225091 in mice fed a high-cholesterol diet.

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
All:  797 reference(s)

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