Exon 9 was replaced with a self-excising floxed neo cassette and an exon 9 containing a nucleotide susbtitution that results in an amino acid substitution of leucine for glycine at position 525 (G525L). (J:135981)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count