A floxed neo cassette was inserted downstream of exon 23 and exon 24 was replaced with one that contained a nucleotide substitution that resulted in an amino acid substitution of a valine for a methionine at position 1592 (M1592V). (J:135831)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count