CRISPR-targeting inserted the mutation responsible for the amino acid substitution of glutamic acid with a termination codon at position 2610 (E2610*). This allele fails to express isoform b. (J:332330)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count