Crispr/Cas9-mediated a 2 bp deletion causing premature stop codon (c.413delAT). Depletion of protein expression was confirmed by western blot in tissue lysates of heterozygous mutant mice. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count