CRISPR/Cas9 technology generated an 8-bp (AACCTGTT) deletion in exon 2 predicted to result in a frameshift and early chain termination due to a premature stop codon and generate a 31 amino acid protein instead of the 529 amino acid wild-type protein. This allele represents line 7. (J:338393)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count