A G to A nucleotide substitution in exon 26 resulted in an aspartic acid to asparagine substitution at codon 1290 (D1290N). In addition a floxed neo cassette was inserted in an adjacent intron. The selection cassette was subsequently removed by cre recombinase. (J:181517)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count