A transition point mutation was introduced at codon 94 via site directed mutagenesis, resulting in an Asp to Asn substitution (D94N) at the alpha/beta interface of the hemoglobin molecule. An intronic floxed neo cassette was included downstream of the coding region. (J:81902)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count