CRISPR/cas9 endonuclease-mediated genome editing is used to insert a hemaglutinin (HA) tag and stop codon into exon 18 (the cytoplasmic domain). Western blot analysis confirms that the mutation results in decreased protein levels in brain, heart, lung, liver and spleen. (J:306272)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count