An animal model for Norrie disease (ND): gene targeting of the mouse ND gene
| Autor: | Wiljan Hendriks, H.J. Winkens, Hans-Hilger Ropers, Dietmar Bächner, Wolfgang Berger, Frank Oerlemans, Bé Wieringa, Dorien J. R. van de Pol, Horst Hameister |
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| Jazyk: | angličtina |
| Rok vydání: | 1996 |
| Předmět: |
Male
Retinal Ganglion Cells Positionele klonering van genen betrokken bij X gebonden retinitis pigmentosa en nachtblindheid Mutant Molecular Sequence Data Outer plexiform layer Nerve Tissue Proteins Retinal disorders Biology Blindness Netvliesaandoeningen Exon Mice Targeted insertional mutagenesis in chromosomal DNA of cell lines and the germ line of mice as means to study gene function Gene expression Positional cloning of genes underlying X linked retinitis pigmentosa and night blindness Genetics medicine Animals Humans Gerichte mutagenese in chromosomaal DNA van cellijnen en de kiembaan van muizen als middel voor bestudering van genfunctie Photoreceptor Cells Amino Acid Sequence RNA Messenger Cloning Molecular Outer nuclear layer Eye Proteins Molecular Biology GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) Genetics (clinical) Mice Knockout Retina Base Sequence Sequence Homology Amino Acid Gene targeting General Medicine Exons Sequence Analysis DNA medicine.disease Molecular biology Vitreous Body medicine.anatomical_structure Organ Specificity Gene Targeting Female sense organs Norrie disease |
| Zdroj: | Human Molecular Genetics, 5, 51-59 Human Molecular Genetics, 5, pp. 51-59 Human Molecular Genetics, 5, 1, pp. 51-59 |
| ISSN: | 0964-6906 |
| Popis: | In order to elucidate the cellular and molecular processes which are involved in Norrie disease (ND), we have used gene targeting technology to generate ND mutant mice. The murine homologue of the ND gene was cloned and shown to encode a polypeptide that shares 94% of the amino acid sequence with its human counterpart. RNA in situ hybridization revealed expression in retina, brain and the olfactory bulb and epithelium of 2 week old mice. Hemizygous mice carrying a replacement mutation in exon 2 of the ND gene developed retrolental structures in the vitreous body and showed an overall disorganization of the retinal ganglion cell layer. The outer plexiform layer disappears occasionally, resulting in a juxtaposed inner and outer nuclear layer. At the same regions, the outer segments of the photoreceptor cell layer are no longer present. These ocular findings are consistent with observations in ND patients and the generated mouse line provides a faithful model for study of early pathogenic events in this severe X-linked recessive neurological disorder. |
| Databáze: | OpenAIRE |
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