CRISPR/Cas9 technology generated a C to G change at position 254 (c.254C>G) that results in serine to cysteine substitution at amino acid 85 (p.S85C). These mice also have two silent mutations (c.261T>C, p.F87 and C.264C>T, p.N88) which prevent re-cleavage of the repaired allele and remove an MseI restriction endonuclease site, allowing for genotyping. (J:298091)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count