Pot1a^tm1.2Blas
Targeted Allele Detail

Summary

• Symbol: Pot1a^tm1.2Blas
• Name: protection of telomeres 1A; targeted mutation 1.2, Maria A Blasco
• MGI ID: MGI:7439770
• Synonyms: Pot1a^ki, Pot1a^ki-R117C, Pot1a^R117C
• Gene: Pot1a Location: Chr6:25743939-25809280 bp, - strand Genetic Position: Chr6, 11.65 cM
• Alliance: Pot1a^tm1.2Blas 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 (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• 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. Cre-mediated recombination removed the wild-type exon 7 and replaced it with the mutated exon, harboring the R117C missense mutation, in forward orientation. Western blot analysis confirmed no differences in mutant protein expression compared to wild-type protein expression in heterozygous MEFs. The R117C mutation has been identified in Li-Fraumeni-Like patients with increased cancer susceptibility. (J:325969)

Tumor Data

List all tumor models in MMHCdb carrying Pot1a^tm1.2Blas

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)