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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
Nucleotide substitutions
--
1
1
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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