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| Nomenclature |
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Symbol:
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Lrp5r18
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Name:
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low density lipoprotein receptor-related protein 5;
r18
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MGI ID: |
MGI:3774282 |
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Gene:
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Lrp5
Location:
Chr19:3584828-3686564 bp, - strand
Genetic Position: Chr19,
3.33 cM, cytoband B
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Insertion |
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Mutation details: The 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Lrp5 Mutation:
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8 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
