Lrp5^tvrm111B
Chemically induced Allele Detail

Summary

• Symbol: Lrp5^tvrm111B
• Name: low density lipoprotein receptor-related protein 5; translational vision research model 111B
• MGI ID: MGI:5902782
• Gene: Lrp5 Location: Chr19:3634828-3736564 bp, - strand Genetic Position: Chr19, 3.33 cM, cytoband B
• Alliance: Lrp5^tvrm111B page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Nucleotide repeat expansion
• Mutation details: This ENU-induced insertion of a single C into a string of 9 successive cytosines in a highly conserved GC-rich region is predicted to result in the replacement of 39 C-terminal amino acids with 20 novel amino acids, disrupting the last 3 PPPSPxS motifs in the cytoplasmic domain and introducing a premature stop codon. (J:241491)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lrp5 Mutation: 81 strains or lines available

References

• Original: J:241491 Charette JR, et al., A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density. Mol Vis. 2017;23:140-148
• All: 1 reference(s)