{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:52:22Z","timestamp":1781110342411,"version":"3.54.1"},"reference-count":43,"publisher":"National Academy of Sciences","issue":"24","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1997,11,25]]},"abstract":"<jats:p>\n                    The\n                    <jats:italic>piebald<\/jats:italic>\n                    locus on mouse chromosome 14 encodes the endothelin-B receptor (EDNRB), a G protein-coupled, seven-transmembrane domain protein, which is required for neural crest-derived melanocyte and enteric neuron development. A spontaneous null allele of\n                    <jats:italic>Ednrb<\/jats:italic>\n                    results in homozygous mice that are predominantly white and die as juveniles from megacolon. To identify the important domains for EDNRB function, four recessive juvenile lethal alleles created by either radiation or chemical mutagens (\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>27Pub<\/jats:sup>\n                    ,\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>17FrS<\/jats:sup>\n                    ,\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>1Chlc<\/jats:sup>\n                    , and\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>3Chlo<\/jats:sup>\n                    ) were examined at the molecular level.\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>27Pub<\/jats:sup>\n                    mice harbor a mutation at a critical proline residue in the fifth transmembrane domain of the EDNRB protein. A gross genomic alteration within the\n                    <jats:italic>Ednrb<\/jats:italic>\n                    gene in\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>3Chlo<\/jats:sup>\n                    results in the production of aberrantly sized transcripts and no authentic\n                    <jats:italic>Ednrb<\/jats:italic>\n                    mRNA.\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>17FrS<\/jats:sup>\n                    mice exhibited a decreased level of\n                    <jats:italic>Ednrb<\/jats:italic>\n                    mRNA, supporting previous observations that the degree of spotting in\n                    <jats:italic>piebald<\/jats:italic>\n                    mice is dependent on the amount of EDNRB expressed. Finally, no molecular defect was detected in\n                    <jats:italic>Ednrb<\/jats:italic>\n                    <jats:sup>1Chlc<\/jats:sup>\n                    mice, which produce normal levels of\n                    <jats:italic>Ednrb<\/jats:italic>\n                    mRNA in adult brain, suggesting that the mutation affects important regulatory elements that mediate the expression of the gene during development.\n                  <\/jats:p>","DOI":"10.1073\/pnas.94.24.13105","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:31:39Z","timestamp":1027679499000},"page":"13105-13110","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":19,"title":["Molecular characterization of four induced alleles at the\n                    <i>Ednrb<\/i>\n                    \u2009locus"],"prefix":"10.1073","volume":"94","author":[{"given":"Myung K.","family":"Shin","sequence":"first","affiliation":[{"name":"Howard Hughes Medical Institute and Department of Molecular Biology, Princeton University, Princeton, NJ 08544; and Biology Division, Oak Ridge National Laboratory, Oak Ridge, TN 37831-8077"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liane B.","family":"Russell","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute and Department of Molecular Biology, Princeton University, Princeton, NJ 08544; and Biology Division, Oak Ridge National Laboratory, Oak Ridge, TN 37831-8077"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley M.","family":"Tilghman","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute and Department of Molecular Biology, Princeton University, Princeton, NJ 08544; and Biology Division, Oak Ridge National Laboratory, Oak Ridge, TN 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