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Chemically induced Allele Detail
Symbol: LdlrHlb301
Name: low density lipoprotein receptor; heart, lung and blood 301
MGI ID: MGI:2683091
Synonyms: WHC, wicked high cholesterol
Gene: Ldlr  Location: Chr9:21723576-21749916 bp, + strand  Genetic Position: Chr9, 7.87 cM
Strain of Origin:  C57BL/6J
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis 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
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: 2 strains available      Cell Lines: 0 lines available
Carrying any Ldlr Mutation:  46 strains or lines available
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).

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:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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