Brd4^M1Rvt
Chemically induced Allele Detail

Summary

• Symbol: Brd4^M1Rvt
• Name: bromodomain containing 4; mutation 1, Rajesh V Thakker
• MGI ID: MGI:6355946
• Synonyms: Brd4^M149T, RCALC1
• Gene: Brd4 Location: Chr17:32415248-32503696 bp, - strand Genetic Position: Chr17, 17.39 cM, cytoband B2
• Alliance: Brd4^M1Rvt page

Mutation origin

• Strain of Origin: BALB/cAnNCrl

Mutation description

• Allele Type: Chemically induced (ENU) (Dominant negative)
• Mutation: Single point mutation
• Mutation details: ENU mutation caused a c.446T>C point mutation leading to methionine codon 149 changeing to a threonine codon (p.Met149Thr or p.M149T). Mice carrying this allele recapitulate the phenotype of human nephrocalcinosis (NC) patients. (J:277882)
• Inheritance: Dominant

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 Brd4 Mutation: 106 strains or lines available

References

• Original: J:277882 Gorvin CM, et al., Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis. J Bone Miner Res. 2019 Jul;34(7):1324-1335
• All: 1 reference(s)