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Graw, J.

Mouse models for microphthalmia, anophthalmia and cataracts.

Hum. Genet. 138, 1007-1018 (2019)
Verlagsversion Postprint DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia, and 180 for cataracts. Approximately, 25% of the loci are not yet characterized; however, some of the ancient lines are extinct and not available for future research. The phenotypes of the mutants represent a continuous spectrum either in anophthalmia and microphthalmia, or in microphthalmia and cataracts. On the other side, mouse models are still missing for some genes, which have been identified in human families to be causative for anophthalmia, microphthalmia, or cataracts. Finally, the mouse offers the possibility to genetically test the roles of modifiers and the role of SNPs; these aspects open new avenues for ophthalmogenetics in the mouse.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Lens Development; Fraser-syndrome; Dominant Cataract; Congenital Anophthalmia; Deletion Mutation; Enu Mutagenesis; Homeobox Gene; Animal-model; Small Eyes; Crystallin
Sprache englisch
Veröffentlichungsjahr 2019
HGF-Berichtsjahr 2019
ISSN (print) / ISBN 0340-6717
e-ISSN 1432-1203
Zeitschrift Human Genetics
Quellenangaben Band: 138, Heft: 8-9, Seiten: 1007-1018 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort 233 Spring St, New York, Ny 10013 Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Developmental Genetics (IDG)
POF Topic(s) 30204 - Cell Programming and Repair
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500500-002
G-500500-001
DOI 10.1007/s00439-019-01995-w
WOS ID WOS:000482786200015
Scopus ID 85064153282
PubMed ID 30919050
Erfassungsdatum 2019-04-01
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