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| Gene Synthesis | … E-mail: bah@ucsd.edu. Search for other works by this author on: Oxford Academic. Google Scholar. 1 Present addresses: Ambry Genetics, Aliso Viejo, CA. 2 GenScript USA Inc, San Francisco, CA. 3 Bioengineering Graduate Program, University of California, San Diego, CA. 4 … | Get A Quote |
encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse or its human ortholog are associated with a range of developmental abnormalities reminiscent of ciliopathies, including cerebellar vermis hypoplasia and other midline brain defects. Null mice have reduced viability in most strain backgrounds. Here we show complete lethality on a C57BL/6J background, dominant rescue in backcrosses to any of 13 partner strains, with strain-dependent survival frequencies, and evidence for a BALB/c-derived survival modifier locus on chromosome 5. Survival data indicate both perinatal and postnatal periods of lethality. Anatomical data from a hypomorphic ge... More
