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Lrp5r18
Chemically induced Allele Detail
Nomenclature
Symbol: Lrp5r18
Name: low density lipoprotein receptor-related protein 5; r18
MGI ID: MGI:3774282
Gene: Lrp5  Location: Chr19:3584828-3686564 bp, - strand  Genetic Position: Chr19, 3.33 cM, cytoband B
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Insertion
 
Mutation detailsThe r18 mutation was mapped to Chromosome 19, and corresponds to the insertion of a single nucleotide, C, after position 4838 of the low density lipoprotein receptor-related protein 5 encoding gene (Lrp5). This causes a frameshift after codon 1576, which encodes proline. The frameshift is predicted to replace the C-terminal 39 amino acids of LRP5 with 20 aberrant amino acids, and to cause premature termination at codon 1596 in exon 23 of 23 total exons. (J:135279)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Lrp5 Mutation:  8 strains or lines available
References
Original:  J:135279 Xia CH, et al., A model for familial exudative vitreoretinopathy caused by LPR5 mutations. Hum Mol Genet. 2008 Jun 1;17(11):1605-12
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory