Ldlr^tm1Her
Targeted Allele Detail

Summary

• Symbol: Ldlr^tm1Her
• 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: Chr9:21634872-21661215 bp, + strand Genetic Position: Chr9, 7.87 cM
• Alliance: Ldlr^tm1Her page

Phenotype of aortic arch atherosclerotic lesions in Tbx21^tm1Glm/Tbx21^tm1Glm Ldlr^tm1Her/Ldlr^tm1Her and Ldlr^tm1Her/Ldlr^tm1Her mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:37394
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

15 anatomical structures

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 19 strains available Cell Lines: 0 lines available
• Carrying any Ldlr Mutation: 62 strains or lines available

Notes

When used in bone marrow transplant into Ldlr^tm1Her homozygous mice, Abca1^tm1Jdm Abcg1^tm1Dgen homozygous cells accelerate the development of atherosclerosis. (J:130777)

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

References

• 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: 1361 reference(s)