A targeting vector containing the R229Q substitution, 2 silent mutations (A823G, T826A), and an EGFP with a floxed neo, was inserted into the locus. The neo was subsequently removed via cre mediated recombination. (J:122108)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count