CRISPR mutagenesis introduced a 1644bp deletion from the middle of exon 3 to the middle of exon 4, resulting in a frame-shift with a deletion of 248 nucleotides in the mRNA product and the introduction of a premature stop codon. Western blot analysis of tissue lysates from embryos showed that the encoded protein is absent in the homozygous mutant samples. (J:242905)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count