The gene locus contains 15 exons. A linearized targeting vector containing a neomycin cassette in the reverse orientation and exons 3-8 was used. After targeting, the allele contained a neomycin cassette in the reverse orientation after the endogenous exon 8, with exons 3-8 repeated downstream of the neo cassette. Insertion caused gene inactivation as determined by semi-quantitative RT-PCR on embryonic fibroblasts, liver, and testes. (J:127153, J:150343)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count