The enhancer located upstream of exon 2, exon 2 and exon 3 were removed by cre-mediated recombination. These regions are responsible for encoding the N-terminal 99 amino acids of the protein thereby removing the translation initiation site and 82% of the TEA domain. Reduction in transcript production was confirmed by northern blot analysis on RNA extracted from lungs. (J:127233)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count