Exon 2 was replaced with one in which an A to C mutation results in the amino acid substitution of alanine for aspartic acid at position 34 (D34A). A floxed neo cassette inserted downstream of exon 3 was removed by cre-mediated recombination. (J:174308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count