Characterization of Scat (suture cataract), a dominant cataract mutation in mice

Graw, Jochen; Kratochvílová, Jana; Löbke, Angelika; Reitmeir, Peter; Schäffer, Ekkehard; Wulff, Andrea

doi:10.1016/0014-4835(89)90055-9

Cited by 22 publications

(12 citation statements)

References 13 publications

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“…The nuclei of the cortical cells could also be detected in the area of the lens nucleus of the Crygb nop and Cryge t lenses (Graw et al, 1990a;1990c). Biochemical investigations demonstrated an increase in the concentration of oxidized glutathione in the Crygb nop lenses over the wild type, which is not due to a corresponding decrease of an enzyme related to this metabolite (Graw et al, 1985;.…”

Section: The γ γ γ γ γ-Crystallinsmentioning

confidence: 91%

Congenital hereditary cataracts

Graw¹

2004

Int. J. Dev. Biol.

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127

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Congenital cataracts are rare and occur in developed countries with a frequency of 30 cases among 100,000 births with a further 10 cases being diagnosed during childhood. They reflect mainly genetically caused developmental alterations in the lens and surrounding ocular tissues. Even if modern Human Genetics has made large steps forward in the characterization of human hereditary disorders, the underlying developmental processes can only be investigated in model organisms. The mouse is such a good model because of its similarity (as a mammal) and its genetic characterization. This review brings together our genetic and developmental knowledge of congenital, human cataracts with the corresponding mouse models. First, early events will be influenced by genes coding for transcription factors like Pax6, Pitx3, Maf or Sox. If the lens is maturing, mutations affecting the lens membranes (aquaporins/Mip, Lim-2 or connexins) or the structural proteins of the cytosol of the lens fiber cells (the crystallins) become more important. From a genetic point of view it becomes obvious that cataract-causing mutations are not distributed randomly. The discovery of a broad variety of genes important for eye and lens development made much progress in the recent years. Nevertheless, there still remains a long list of mutations to be characterized and functionally investigated both in mouse and man indicating a broad genetic heterogeneity in that which clinicians simply refer to as a "cataract".

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Section: The γ γ γ γ γ-Crystallinsmentioning

confidence: 91%

Congenital hereditary cataracts

Graw¹

2004

Int. J. Dev. Biol.

Self Cite

127

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“…Only the ␥-crystallin genes have been mapped to mouse Chromosome (Chr) 1 (Cartier et al, 1992;Everett et al, 1994;Graw et al, 1990;Yoshiki et al, 1991). The genes that determine production of the ␥-crystallin family are currently mapped within 1 cM of each other on mouse Chr 1.…”

Section: Introductionmentioning

confidence: 99%

Lop12, a Mutation in Mouse Crygd Causing Lens Opacity Similar to Human Coppock Cataract

et al. 2000

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“…For example, a mutation designated Cat2 nop shows swelling of lens fibres with later progressive degeneration of the lens core [13]. Rupture of the posterior capsule in association with epithelial and lens fibre cell swelling has been observed in Cat2t mutants [7].…”

Section: Discussionmentioning

confidence: 99%