Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior

RB Yang, SW Robinson, WH Xiong… - Journal of …, 1999 - Soc Neuroscience
RB Yang, SW Robinson, WH Xiong, KW Yau, DG Birch, DL Garbers
Journal of Neuroscience, 1999Soc Neuroscience
One of two orphan photoreceptor guanylyl cyclases that are highly conserved from fish to
mammals, GC-E (or retGC1) was eliminated by gene disruption. Expression of the second
retinal cyclase (GC-F) as well as the numbers and morphology of rods remained unchanged
in GC-E null mice. However, rods isolated from such mice, despite having a normal dark
current, recovered from a light flash markedly faster. Unexpectedly, the a-and b-waves of
electroretinograms (ERG) from dark-adapted null mice were suppressed markedly. Cones …
One of two orphan photoreceptor guanylyl cyclases that are highly conserved from fish to mammals, GC-E (or retGC1) was eliminated by gene disruption. Expression of the second retinal cyclase (GC-F) as well as the numbers and morphology of rods remained unchanged in GC-E null mice. However, rods isolated from such mice, despite having a normal dark current, recovered from a light flash markedly faster. Unexpectedly, the a- and b-waves of electroretinograms (ERG) from dark-adapted null mice were suppressed markedly. Cones, initially present in normal numbers in the retina, disappeared by 5 weeks, based on ERG and histology. Thus, the GC-E-deficient mouse defines a model for cone dystrophy, but it also demonstrates that morphologically normal rods display paradoxical behavior in their responses to light.
Soc Neuroscience