In an attempt to introduce a mutation into exon 5, a floxed neo cassette was introduced into intron 4 then removed via Cre mediated recombination. The presence of the remaining loxP site resulted in aberrant splicing and subsequent nonsense-mediated decay of the mutant mRNA. (J:228679)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count