An exoncarrying a nucleotide substitution that resulted in an amino acid substitution of serine to alanine at position 249 and 276 (S249A, S276A) and a floxed neo cassette were knocked into the open reading frame. The neo cassette was removed by transient cre expression. (J:132661)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count