An A to C nucleotide substitution at position 1828 results in the amino acid substitution of leucine for methionine at position 610 (M610L). An frt flanked neo cassette inserted downstream of exon 6 that was removed by subsequent germ line flp mediated recombination. (J:147914)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count