Lrp5^r18
Chemically induced Allele Detail

Summary

• Symbol: Lrp5^r18
• Name: low density lipoprotein receptor-related protein 5; r18
• MGI ID: MGI:3774282
• Gene: Lrp5 Location: Chr19:3634828-3736564 bp, - strand Genetic Position: Chr19, 3.33 cM, cytoband B
• Alliance: Lrp5^r18 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Insertion
• 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)
• Inheritance: Recessive

Disease models

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: 82 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)