The targeted Smad4 gene encodes a signal transduction critical to TGF-beta signaling and embryonic development. Mutations in this gene have been associated with human pancreatic carcinoma, Juvenile Polyposis Syndrome, Hereditary Hemorrhagic Telangiectasia Syndrome, and Myhre Syndrome. These knock-out mice carry a mutation in which exon 8 and part of exon 9 have been replaced by a NEO selection cassette. No gene product (protein) is detected by Western blot analysis of homozygous immortalized embryonic fibroblasts. Homozygous null mice have an embryonic lethal phenotype, failing to gastrulate or develop past embryonic day 7.5. A decrease in embryo size is observed at E5.5, with disorganized and poorly defined embryonic and the extraembryonic regions. Decreased cell proliferation is detected in homozygous embryos at E6.5 by BrdU labeling. During backcrossing, the Y chromosome may not have been fixed to the C57BL/6 genetic background. Mice that are heterozygous for the targeted mutation are viable and fertile.

This Smad4 knock-out strain is useful in studies of TGF-beta signaling and embryonic development.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

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