Exon 3 was replaced with one in which a T to A transversion produces the amino acid substitution of serine for cysteine at position 129 (C129S). A floxed neo cassette inserted downstream of the modified exon was removed by cre mediated recombination. (J:163711)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count