CRISPR/cas9 endonuclease mediated genome editing is used to introduce a 1 nucleotide deletion (GGCcAACGCCG to GGC-AACGCCG) in exon 5 (encodes the N-terminal portion of the DNA binding domain). This 1 nucleotide deletion causes a frame shift and premature truncation after an additional out-of-frame ~120 nucleotides - resulting in a 300 aa protein. (J:101977)
Basic Information
NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count