Journal
OPHTHALMIC GENETICS
Volume 27, Issue 4, Pages 123-137Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810600977192
Keywords
leber congenital amaurosis; rhodopsin mutations; Usher syndrome; animal models; review
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Funding
- NCI NIH HHS [CA34196] Funding Source: Medline
- NEI NIH HHS [EY11996, EY016501] Funding Source: Medline
- NICHD NIH HHS [T32 HD007065] Funding Source: Medline
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In this review, we focus primarily on information obtained by studying mouse models of heritable ocular diseases. These models have proven to be important in advancing our understanding of disease etiology and of pathological consequences of heritable disorders. Careful phenotypic analyses of these models have lead to hypotheses regarding the function of various molecules as well as the mechanisms underlying the observed pathologies. Specific examples of the utility of mouse models in vision research are discussed.
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