Homologous recombination was used to introduce the EGFP cDNA into exon 3 in frame and upstream of the stop codon. Western blot demonstrated expression of an EGFP protein as expected. Quantitative mRNA analysis demonstrated that the insertion did not interrupt normal transcription of the locus. (J:111033)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count