Exon 2 was replaced with one in which a T to C point mutation results in the amino acid substitution of leucine for proline at position 25 (P25L). Cre-mediated recombination removed the floxed selection cassette inserted downstream of the modified exon 2. (J:223999)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count