Terf2ip^em1Liuyi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Terf2ip^em1Liuyi
• Name: telomeric repeat binding factor 2, interacting protein; endonuclease-mediated mutation 1, Yie Liu
• MGI ID: MGI:7435010
• Synonyms: Rap1^KI
• Gene: Terf2ip Location: Chr8:112738030-112747160 bp, + strand Genetic Position: Chr8, 58.29 cM
• Alliance: Terf2ip^em1Liuyi page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-cas9 mediated recombination using guide RNA created an I to R mutation at position 312 (ATC to CGG). This amino acid is required for association of the protein to TRF2 and telomeres. Cell fractionation and western blot analysis indicated an increase in cytosolic TERF2IP protein levels in heterozygous and homozygous MEFs. An additional silent mutation (CGG to CGC) was introduced in the following codon. (J:332126)

Tumor Data

List all tumor models in MMHCdb carrying Terf2ip^em1Liuyi

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 Terf2ip Mutation: 31 strains or lines available

References

• Original: J:332126 Stock AJ, et al., Aberrant expression and localization of the RAP1 shelterin protein contribute to age-related phenotypes. PLoS Genet. 2022 Nov;18(11):e1010506
• All: 1 reference(s)