An 11 bp deletion was created in exon 22 via CRISPR/cas9 mediated recombination. In addition the repair oligonucleotides introduced a phenylalanine residue after Asp1019, followed by a stop codon. Mutant protein is detected in brain tissue from heterozygous mice but not in tissue from homozygous mutant mice. Mutant protein is mislocalized, accumulating in the apical and subapical pole of colonic epithelial cells from heterozygous mice. (J:264250)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count