A TALEN pair was used to target a site in close proximity to the start codon. An 8-bp deletion was identified in exon 3. The frame shift introduced a premature stop codon in the sequence coding for the secretory signal peptide. Homozygous mice show no detectable protein expression in central nervous system (CNS) tissues, as assessed by Western blotting. (J:233015)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count