Exon 1 was replaced with one in which a point mutation (C to G) results in the amino acid substitution of lysine for asparagine (N48K). The floxed neo cassette inserted downstream of the modified exon 1 was removed by cre mediated recombination. (J:186316)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count