دورية أكاديمية
Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies.
| العنوان: | Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies. |
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| المؤلفون: | Paul R Odgren, Craig H Pratt, Carole A Mackay, April Mason-Savas, Michelle Curtain, Lindsay Shopland, Tsutomu Ichicki, John P Sundberg, Leah Rae Donahue |
| المصدر: | PLoS ONE, Vol 5, Iss 4, p e9959 (2010) |
| بيانات النشر: | Public Library of Science (PLoS), 2010. |
| سنة النشر: | 2010 |
| المجموعة: | LCC:Medicine LCC:Science |
| مصطلحات موضوعية: | Medicine, Science |
| الوصف: | Investigations of naturally-occurring mutations in animal models provide important insights and valuable disease models. Lamins A and C, along with lamin B, are type V intermediate filament proteins which constitute the proteinaceous boundary of the nucleus. LMNA mutations in humans cause a wide range of phenotypes, collectively termed laminopathies. To identify the mutation and investigate the phenotype of a spontaneous, semi-dominant mutation that we have named Disheveled hair and ear (Dhe), which causes a sparse coat and small external ears in heterozygotes and lethality in homozygotes by postnatal day 10.Genetic mapping identified a point mutation in the Lmna gene, causing a single amino acid change, L52R, in the coiled coil rod domain of lamin A and C proteins. Cranial sutures in Dhe/+ mice failed to close. Gene expression for collagen types I and III in sutures was deficient. Skulls were small and disproportionate. Skeletons of Dhe/+ mice were hypomineralized and total body fat was deficient in males. In homozygotes, skin and oral mucosae were dysplastic and ulcerated. Nuclear morphometry of cultured cells revealed gene dose-dependent blebbing and wrinkling.Dhe mice should provide a useful new model for investigations of the pathogenesis of laminopathies. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1932-6203 |
| Relation: | http://europepmc.org/articles/PMC2848607?pdf=render; https://doaj.org/toc/1932-6203 |
| DOI: | 10.1371/journal.pone.0009959 |
| URL الوصول: | https://doaj.org/article/04d0b116581b4ecdac5a1de4002ff341 |
| رقم الأكسشن: | edsdoj.04d0b116581b4ecdac5a1de4002ff341 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 19326203 |
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| DOI: | 10.1371/journal.pone.0009959 |