Sites of Gene Action in Rodents with Hereditary Retinal Degenerations

  • Richard J. Mullen
Part of the Cell and Developmental Biology of the Eye book series (EYE)


A fundamental question that must be asked about any genetic defect i s “where i s the primary site o f gene action?” The site of gene action refers to the cell type which if mutant will result in the mutant phenotype being expressed in itself or another cell type with which it interacts. Before going any further it should be emphasized that when a site of gene action is defined in this context, it does not rule out the possibility that the gene also acts in other cell types. Some of the mutant genes we work with appear to affect only a single cell type, others affect several cell types. Both types of genes might also be acting in yet other cell types only their action there might not be so damaging as to give rise to a noticeable pathological defect.


Purkinje Cell Pigment Epithelium Outer Segment Photoreceptor Cell Retinal Degeneration 
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© Springer-Verlag New York Inc. 1985

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  • Richard J. Mullen

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