CRISPR-cas9 mediated recombination created a TCT to TTG mutation, resulting in an S to L substitution at amino acid 97, and inserted a floxed neo cassette upstream of exon 1. (J:314992)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count