CRISPR/cas9 endonuclease-mediated genome editing is used to target exon 2. The founder contains a 108 nucleotide deletion (including the start codon. Western blot confirms the loss of isoform I. (J:338627)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count