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Mouse models for microphthalmia, anophthalmia and cataracts.
Hum. Genet. 138, 1007-1018 (2019)
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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5.207
1.296
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6
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Publication type
Article: Journal article
Document type
Review
Keywords
Lens Development; Fraser-syndrome; Dominant Cataract; Congenital Anophthalmia; Deletion Mutation; Enu Mutagenesis; Homeobox Gene; Animal-model; Small Eyes; Crystallin
Language
english
Publication Year
2019
HGF-reported in Year
2019
ISSN (print) / ISBN
0340-6717
e-ISSN
1432-1203
Journal
Human Genetics
Quellenangaben
Volume: 138,
Issue: 8-9,
Pages: 1007-1018
Publisher
Springer
Publishing Place
233 Spring St, New York, Ny 10013 Usa
Reviewing status
Peer reviewed
Institute(s)
Institute of Developmental Genetics (IDG)
POF-Topic(s)
30204 - Cell Programming and Repair
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500500-002
G-500500-001
G-500500-001
WOS ID
WOS:000482786200015
Scopus ID
85064153282
PubMed ID
30919050
Erfassungsdatum
2019-04-01