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Publication : Positional cloning of jcpk/bpk locus of the mouse.

First Author  Cogswell C Year  2003
Journal  Mamm Genome Volume  14
Issue  4 Pages  242-9
PubMed ID  12682776 Mgi Jnum  J:82707
Mgi Id  MGI:2654416 Doi  10.1007/s00335-002-2241-0
Citation  Cogswell C, et al. (2003) Positional cloning of jcpk/bpk locus of the mouse. Mamm Genome 14(4):242-9
abstractText  By positional cloning techniques, we have identified the gene that is disrupted in the jcpk and bpk mouse models for polycystic kidney disease. This gene is the mouse homolog of the Drosophila Bicaudal C gene. Both of these mutations have been mapped to a very short stretch of Chromosome (Chr) 10. By sequencing the bicaudal C gene, Bicc1, in these models, it was found that the jcpk mutation results in a shortened and abnormal transcript, whereas the bpk mutation results in an abnormal 3' coding region. In Drosophila, this gene encodes a protein known to influence developmental processes. The mammalian homolog contains three KH (K homology) domains and a SAM (sterile alpha motif) domain and is expressed in the developing embryo, indicating that it may be important in RNA-binding and/or protein interactions during embryogenesis.
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