Polg^em1Carv
Endonuclease-mediated Allele Detail

Summary

• Symbol: Polg^em1Carv
• Name: polymerase (DNA directed), gamma; endonuclease-mediated mutation 1, Carlo Viscomi
• MGI ID: MGI:6719074
• Synonyms: Polg^A449T
• Gene: Polg Location: Chr7:79095979-79116110 bp, - strand Genetic Position: Chr7, 45.04 cM, cytoband E
• Alliance: Polg^em1Carv page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: Exon 7 was targeted for a G-to-A mutation at alanine codon 449 (GCT), changing it to threonine (ACT) (c.1345G>A, p.Ala449Thr), with sgRNAs and an ssODN template using CRISPR/Cas9 technology. This mutation mimics the most common human recessive mutation p.Ala467Thr. (J:307133)

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 Polg Mutation: 60 strains or lines available

References

• Original: J:307133 Silva-Pinheiro P, et al., DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Nucleic Acids Res. 2021 May 21;49(9):5230-5248
• All: 1 reference(s)