Ldlr^Hlb301
Chemically induced Allele Detail

Summary

• Symbol: Ldlr^Hlb301
• Name: low density lipoprotein receptor; heart, lung and blood 301
• MGI ID: MGI:2683091
• Synonyms: WHC, wicked high cholesterol
• Gene: Ldlr Location: Chr9:21634872-21661215 bp, + strand Genetic Position: Chr9, 7.87 cM
• Alliance: Ldlr^Hlb301 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutation was identified in a screen of the progeny of ENU treated male mice for serum cholesterol elevation in response to a high fat, high cholesterol diet. It is a G to A transition at nucleotide 2096 of the mouse cDNA sequence, in a region encoded by exon 14, resulting in replacement of a highly conserved cysteine by tyrosine at amino acid 699 (C699Y; count includes 21-aa signal peptide), which is predicted to cause a folding defect and failure of the protein to transit from the endoplasmic reticulum to the Golgi system. (J:140060)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ldlr Mutation: 81 strains or lines available

Notes

Schmidt and Kostner (Atherosclerosis 148(2):431-432, 1999) identified the same mutation in an Austrian patient with Familial Hypercholesterolemia (FH): a G-to-A transition at nucleotide 2093 of the human LDLR coding sequence, resulting in replacement of cysteine with tyrosine at amino acid 677 (count does not include 21-aa signal peptide).

References

• Original: J:82961 JAX National Heart, Lung and Blood Program for Genomic Applications (PGA), Heritable mouse mutants from the JAX NHLBI ENU Mutagenesis Program. MGI Direct Data Submission. 2003-10
• All: 9 reference(s)