Polg2^M1Rvt
Chemically induced Allele Detail

Summary

• Symbol: Polg2^M1Rvt
• Name: polymerase (DNA directed), gamma 2, accessory subunit; mutation 1, Rajesh V Thakker
• MGI ID: MGI:6355913
• Synonyms: Polg2^Y265X, RCALC2
• Gene: Polg2 Location: Chr11:106659079-106670363 bp, - strand Genetic Position: Chr11, 70.01 cM, cytoband E1
• Alliance: Polg2^M1Rvt page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The ENU-induced molecular lesion is a C-to-A transversion (c.795C>A) in codon 265 that is predicted to result in an alteration of the tyrosine (Tyr) to a premature stop codon (p.Y265*). Mice carrying this allele recapitulate the phenotype of human nephrocalcinosis (NC) patients. (J:277879)
• 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 Polg2 Mutation: 25 strains or lines available

References

• Original: J:277879 Gorvin CM, et al., An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice. J Bone Miner Res. 2019 Mar;34(3):497-507
• All: 1 reference(s)