Exon 5 was replaced with a floxed neo cassette and a modified exon 5 in which nucleotide substitution results in the amino acid substitution of phenylalanine for tyrosine at postion 134 (Y134F). Cre-mediated recombination removed the neo cassette. (J:177923)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count