CRISPR/cas9 endonuclease mediated genome editing was used to introduce a single nucleotide insertion of an A residue within exon 2. This mutation generates a frameshift that results in premature stop codon, creating a knock-out allele. No gene product (protein) is detected by western blot analysis of brain, skeletal muscle and heart tissue from homozygous animals. (J:254726)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count