A nucleotide substitution leading to the amino acid substitution of alanine for aspartic acid at position 561 (D561A) was knocked into exon 7 along with a floxed neo cassette that was subsequently removed by cre-mediated recombination. (J:129716)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count