A floxed neo cassette was inserted upstream of exon 3. Exons 5 was replaced with one in which nucleotide substitution results in the amino acid substitution of leucine for phenylalanine at position 118 (F118L). Cre-mediated recombination removed the neo cassette. (J:180794)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count