The targeting construct inserted the point mutation G to T at c.529 generating the amino acid substitution of glycine with cysteine at position 177 (G177C). An additional silent c.534G to A mutation was introduced to generate a new restriction site. Flp-mediated recombination removed the selection cassette. (J:320847)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count