{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:54:50Z","timestamp":1781106890329,"version":"3.54.1"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"21","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1994,10,11]]},"abstract":"<jats:p>The jaundiced, ja\/ja, mouse mutant has a severe hemolytic anemia associated with a deficiency of beta-spectrin in erythrocyte ghosts. Genes for the disease phenotype and beta-spectrin colocalize on Chromosome 12. beta-Spectrin mRNA is not detected in reticulocytes or in brain from newborn mutant mice. To locate the nucleotide sequence alteration, the erythroid beta-spectrin transcript from mutant spleen was amplified by reverse transcription PCR and sequenced. A C-to-T alteration is present in the mutant transcript and produces a premature stop codon from an arginine codon in mRNA encoding repeat 9 of beta-spectrin at amino acid position 1160. The point mutation introduces a Dde I site that is present in PCR-amplified DNA of ja\/ja and ja\/+ mice but not of +\/+ control mice from the strain of origin, 129\/Sv, or from the two strains, WB\/Re and C57BL\/6J, in which the mutation has been fixed by over 53 generations of backcrossing. The genetic data confirm that the point mutation is responsible for the severe reductions in beta-spectrin mRNA of jaundiced mice.<\/jats:p>","DOI":"10.1073\/pnas.91.21.10099","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T08:57:05Z","timestamp":1149065825000},"page":"10099-10103","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":23,"title":["The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin."],"prefix":"10.1073","volume":"91","author":[{"given":"M L","family":"Bloom","sequence":"first","affiliation":[{"name":"Jackson Laboratory, Bar Harbor, ME 04609."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T M","family":"Kaysser","sequence":"additional","affiliation":[{"name":"Jackson Laboratory, Bar Harbor, ME 04609."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C S","family":"Birkenmeier","sequence":"additional","affiliation":[{"name":"Jackson Laboratory, Bar Harbor, ME 04609."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J E","family":"Barker","sequence":"additional","affiliation":[{"name":"Jackson Laboratory, Bar Harbor, ME 04609."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1994,10,11]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.91.21.10099","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T13:52:33Z","timestamp":1649857953000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.91.21.10099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10,11]]},"references-count":0,"journal-issue":{"issue":"21","published-print":{"date-parts":[[1994,10,11]]}},"alternative-id":["10.1073\/pnas.91.21.10099"],"URL":"https:\/\/doi.org\/10.1073\/pnas.91.21.10099","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10,11]]},"assertion":[{"value":"1994-10-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}