CRISR-cas9 mediated recombination using 2 guide RNAs created a 1,186 bp deletion in exon 1 creating a frameshift mutation starting at amino acid 176 and a truncation of the protein at amino acid 189. (J:331265)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count