CRISPR/cas9 endonuclease-mediated genome editing is used to insert a loxP-flanked Sirt1 minigene that includes exons 5-9, the Sirt1 3' UTR and a STOP into intron 4 of the gene. In addition, a histidine to alanine amino acid substitution at codon 355 (H355A, CAT to GCT) is inserted into the endogenous exon 5. The mutation creates a catalytically dead allele. (J:338949)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count