CRISPR-targeting of exon 4 produced an AAG-to-GCC mutation that caused a lysine to alanine mutation in position 53 (K53A). This allele produces a kinase dead protein. (J:313593)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count