Exon 1 was replaced with one containing a serine (TCG) to alanine (GCC) substitution at codon 47 (S47A). A neomycin selection cassette flanked by loxP sites was removed via cre-mediated recombination, leaving one loxP site in the flanking intron. RT-PCR confirmed that transcript expression is similar to wild-type levels. (J:264475)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count