A T to C transition resulted in the insertion of the human F137L mutation in the third transmembrane region. A floxed sequence, including an frt-flanked neo, was located downstream of the F137L mutation and subsequently removed via transient cre expression. (J:121802)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count