CRISPR/Cas9 targeting introduced nucleotide substitution(s) that result(s) in the amino acid substitution of threonine for alanine at position 647 (A647T). This is equivalent to the human A653T mutation. (J:250314)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count