The targeting construct modified exon 14 to include the sequence coding for the amino acid substitution of asparagine with isoleucine at position 141 (N141I). Cre-mediated recombination removed the floxed selection cassette in intron 14. (J:325409)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count