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Presenilin proteins are part of a complex of proteins that can cleave many type I transmembrane proteins, including Notch Receptors and the Amyloid Precursor Protein, in the middle of the transmembrane domain. Dominant mutations in the human presenilin genes PS1 and PS2 lead to Familial Alzheimer's disease. Mutations in the Caenorhabditis elegans sel-12 presenilin gene cause a highly penetrant egg-laying defect due to reduction of signalling through the lin-12/Notch receptor. Mutations in six spr genes (for suppressor of presenilin) are known to strongly suppress sel-12. Mutations in most strong spr genes suppress sel-12 by de-repressing the transcription of the largely functionally equivalent hop-1 presenilin gene. However, how mutations in the spr-2 gene suppress sel-12 is unknown.
Pubmed ID: 19302704 RIS Download
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THIS RESOURCE IS NO LONGER IN SERVCE, documented September 2, 2016. The mission of the C. elegans Gene Knockout Consortium is to facilitate genetic research of this important model system through the production of deletion alleles at specified gene targets. We choose targets based on investigator requests. Strains produced by the consortium are freely available with no restrictions to any investigator. At one time, our capacity dictated that we restrict requests to five per lab. This restriction no longer holds. Investigators are encouraged especially to register requests for functionally related groups of genes. Consortium strains are distributed by the C. elegans Genetic Center (CGC). In most cases, when you use the Consortium web site to request an existing allele, your request is forwarded automatically to the CGC. However, if you indicate that an existing allele is not satisfactory for your research, (for whatever reason), you may request that we generate another allele for the same target. Any information generated by the Consortium is entered into the official C. elegans data repository, WormBase.
View all literature mentionsCentral data repository for nematode biology including complete genomic sequence, gene predictions and orthology assignments from range of related nematodes.Data concerning genetics, genomics and biology of C. elegans and related nematodes. Derived from initial ACeDB database of C. elegans genetic and sequence information, WormBase includes genomic, anatomical and functional information of C. elegans, other Caenorhabditis species and other nematodes. Maintains public FTP site where researchers can find many commonly requested files and datasets, WormBase software and prepackaged databases.
View all literature mentionsCaenorhabditis elegans with name sel-12(ar171) unc-1(e538) X. from WB.
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