A loxP site was inserted into intron 14 and a human GH gene polyA site and a second loxP site were inserted downstream of exon 19. Downstream of that loxP site, modified genomic sequence coding for exons 15-19 of the gene and a second human GH gene polyA site were insterted. In both the endogenous and duplicated sequence, intron 15 was removed to create an exon 15-16 fusion. An FRT site flanked neomycin resistance gene cassette was inserted into intron 14 and an F3 site flanked puromycin resistance gene cassette downstream of the second GH polyA site. Both cassettes were removed through subsequent flp-mediated recombination. The engineered mutations in the duplicate sequence are in exon 15 (codon change resulting in a K662A change in encoded peptide) and exon 18 (W752A and Y762S). These mutations would render the encoded peptide enzymatically inactive. This is a conditional-ready allele with floxed exons 15-19 and only upon cre-mediated recombination will these exons be deleted and replaced with the mutated exons. (J:240758)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count