Plasmids encoding a signal guide RNA are designed to introduce the D801N point mutation in exon 17. An additional silent nucleotide change was introduced as part of the CRISPR/Cas9 targeting strategy. This change of CTG to CTA (L802L) has no effect on protein sequence. Correctly targeted pups were identified by sequencing and PCR. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count