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A Knock-In Mouse Model for the R120G Mutation of αB-Crystallin Recapitulates Human Hereditary Myopathy and Cataracts
An autosomal dominant missense mutation in αB-crystallin (αB-R120G) causes cataracts and desmin-related myopathy, but the underlying mechanisms are unknown. Here, we report the development of an αB-R120G crystallin knock-in mouse model of these disorders. Knock-in αB-R120G mice were generated and an...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060869/ https://www.ncbi.nlm.nih.gov/pubmed/21445271 http://dx.doi.org/10.1371/journal.pone.0017671 |