A C to T tranition in codon 21 changed the encoded amino acid from arginine to cysteine. In addition, a floxed neo cassette wasinserted in intron 3. (J:180606)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count