CRISPR/cas9 endonuclease mediated genome editing was used to introduce a deletion of a GAG codon from exon 6 that results in the deletion of the glutamic acid (E) at position 138. Card14em5Lutzy and Card14em9Lutzy were generated from two different founders, both carry the same mutation. (J:262723)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count