Retinitis pigmentosa

DT Hartong, EL Berson, TP Dryja - The Lancet, 2006 - thelancet.com
Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

Cyclic nucleotide phosphodiesterases: functional implications of multiple isoforms

JA Beavo - Physiological reviews, 1995 - journals.physiology.org
In the last few years there has been a veritable explosion of knowledge about cyclic
nucleotide phosphodiesterases. In particular, the accumulating data showing that there are …

[HTML][HTML] The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes

MJ Mattapallil, EF Wawrousek, CC Chan… - … & visual science, 2012 - tvst.arvojournals.org
Purpose.: We noted an unexpected inheritance pattern of lesions in several strains of gene-
manipulated mice with ocular phenotypes. The lesions, which appeared at various stages of …

[HTML][HTML] Light and the laboratory mouse

SN Peirson, LA Brown, CA Pothecary… - Journal of neuroscience …, 2018 - Elsevier
Light exerts widespread effects on physiology and behaviour. As well as the widely-
appreciated role of light in vision, light also plays a critical role in many non-visual …

[HTML][HTML] Retinal degeneration mutants in the mouse

B Chang, NL Hawes, RE Hurd, MT Davisson… - Vision research, 2002 - Elsevier
The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and
genetically diverse inbred strains, is an ideal place to look for genetically determined eye …

Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice.

SW John, RS Smith, OV Savinova… - … & visual science, 1998 - iovs.arvojournals.org
PURPOSE: To characterize ocular abnormalities associated with iris atrophy in DBA/2J mice
and to determine whether mice of this strain develop elevated intraocular pressure (IOP) and …

[HTML][HTML] Two mouse retinal degenerations caused by missense mutations in the β-subunit of rod cGMP phosphodiesterase gene

B Chang, NL Hawes, MT Pardue, AM German… - Vision research, 2007 - Elsevier
We report the chromosomal localization, mutant gene identification, ophthalmic appearance,
histology, and functional analysis of two new hereditary mouse models of retinal …

Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy

J Bennett, T Tanabe, D Sun, Y Zeng, H Kjeldbye… - Nature medicine, 1996 - nature.com
Mutations in the β subunit of the cGMP phosphodiesterase gene (βPDE) can cause a
recessively inherited retinal degeneration in several species, including mice, dogs and …

Deficits in cognition and synaptic plasticity in a mouse model of Down syndrome ameliorated by GABAB receptor antagonists

AM Kleschevnikov, PV Belichenko, M Faizi… - Journal of …, 2012 - Soc Neuroscience
Cognitive impairment in Down syndrome (DS) is characterized by deficient learning and
memory. Mouse genetic models of DS exhibit impaired cognition in hippocampally mediated …

Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile‐X knockout mice

SA Irwin, M Idupulapati, ME Gilbert… - American journal of …, 2002 - Wiley Online Library
Fragile‐X syndrome is a common form of mental retardation resulting from the inability to
produce the fragile‐X mental retardation protein. The specific function of this protein is …