Pot1a^tm1.1Blas
Targeted Allele Detail

Summary

• Symbol: Pot1a^tm1.1Blas
• Name: protection of telomeres 1A; targeted mutation 1.1, Maria A Blasco
• MGI ID: MGI:7439769
• Synonyms: Pot1a^flex, Pot1a^flexR117C
• Gene: Pot1a Location: Chr6:25743939-25809280 bp, - strand Genetic Position: Chr6, 11.65 cM
• Alliance: Pot1a^tm1.1Blas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:325969
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Null/knockout)
• Mutation: Insertion
• Mutation details: An arginine to cysteine substitution at amino acid 117 was knocked-in using the FLEx switch system. A cassette containing the following elements replaced the wild-type exon 7: a loxP site, a loxP511 site, exon 7 with a mutation changing arginine codon 117 (CGC) to cysteine (TGC) (p.R117C) in reverse orientation, an FRT site flanked neomycin selection cassette, a loxP site in reverse orientation, wild-type exon 7 in forward orientation, and a loxP511 site in reverse orientation. The neomycin selection cassette was removed via Flp-mediated recombination. Upon expression of Cre recombinase, the wild-type exon 7 will be removed and the mutated exon, harboring the R117C missense mutation, will be flipped to the forward orientation. Sequencing transcripts from this allele indicates that the insertion of the mutant exon 7 disrupts proper processing of intron 6 as they retain the inverted mutant exon in that intron. (J:325969)

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 Pot1a Mutation: 41 strains or lines available

References

• Original: J:325969 Martinez P, et al., A mouse model for Li-Fraumeni-Like Syndrome with cardiac angiosarcomas associated to POT1 mutations. PLoS Genet. 2022 Jun;18(6):e1010260
• All: 1 reference(s)