CRISPR/cas9 endonuclease-mediated genome editing is used to target close to the start codon of isoform I and III. The founder contains a 1 nucleotide deletion at the beginning of the open reading frame resulting in a frame shift at residue 33 that produces a stop codon at amino acid 40. Western blot confirms the loss of isoform I. It is not clear if isoforms II and III are affected. (J:240578)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count