Lrp4^tm1.1Pg
Targeted Allele Detail

Summary

• Symbol: Lrp4^tm1.1Pg
• Name: low density lipoprotein receptor-related protein 4; targeted mutation 1.1, PolyGene AG
• MGI ID: MGI:6343233
• Synonyms: Lrp4^R1170Q
• Gene: Lrp4 Location: Chr2:91287856-91344124 bp, + strand Genetic Position: Chr2, 50.63 cM
• Alliance: Lrp4^tm1.1Pg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:277372
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to A change at position 3509 resulting in an arginine to glutamine change at amino acid 1170 (R1170Q) was introduced in exon 25. An FRT-flanked neomycin cassette was inserted 418 bp downstream of exon 25 and was excised via Flp-mediated recombination. (J:277372)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Lrp4 Mutation: 98 strains or lines available

References

• Original: J:277372 Boudin E, et al., The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans. J Bone Miner Res. 2017 Aug;32(8):1739-1749
• All: 1 reference(s)