Polg^tm1.1Suom
Targeted Allele Detail

Summary

• Symbol: Polg^tm1.1Suom
• Name: polymerase (DNA directed), gamma; targeted mutation 1.1, Anu Suomalainen
• MGI ID: MGI:8207427
• Synonyms: MIRAS
• Gene: Polg Location: Chr7:79095979-79116110 bp, - strand Genetic Position: Chr7, 45.04 cM, cytoband E
• Alliance: Polg^tm1.1Suom page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:365276
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6JOlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A G to C change at position 2177 (c.2177G>C) resulting in a tryptophan to serine substitution at amino acid 726 (p.W726S) in exon 13 and an A to G change at position 3362 (c.3362A>G) resulting in a glutamate to glycine substitution at amino acid 1121 (p.E1121G) in exon 21 was introduced into the locus by replacing exons 4-22 with a construct carrying exons 4-22 with these mitochondrial recessive ataxia syndrome (MIRAS) variants (corresponding to p.W748S and p.E1143G in human PLOG1). In addition, a loxP site and an FRT-flanked neomycin cassette was inserted upstream of exon 11 and a second loxP site downstream stream of exon 13. The neomycin cassette was removed via flp-mediated recombination. (J:365276)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Polg Mutation: 59 strains or lines available

References

• Original: J:365276 Kang Y, et al., Ancestral allele of DNA polymerase gamma modifies antiviral tolerance. Nature. 2024 Apr;628(8009):844-853
• All: 1 reference(s)