Aspartic acid codon 178 in exon 5 was changed to premature stop codon TAA using an sgRNA and a 183 nt single-stranded DNA oligonucleotide template with CRISPR/Cas9 technology. Two additional substitutions were introduced immediately downstream to create an EcoRI restriction site for diagnostic purposes. The mutation is encoded NM_001200038.1:c.562_569delinsTAAGAAT. All necessary components were microinjected into the cytoplasm of C57BL/6 zygotes. (J:261225)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count