Article

Cat LCA- <i>CRX</i> model, homozygous for an antimorphic mutation has a unique phenotype

2023-03-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> Human mutations in the CRX transcription factor are associated with dominant retinopathies often with more severe macular changes. The CRX- mutant cat ( Rdy-A182d2 ) is the only animal model with the equivalent of the critical retinal region for high acuity vision, the macula. Heterozygous cats ( CRX Rdy/+ ) have a severe phenotype modeling Leber congenital amaurosis. This...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6042bd76-2d42-54f8-b395-00ef1b99c43b
DOI: 10.1101/2023.03.01.530650

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cat LCA- <i>CRX</i> model, homozygous for an antimorphic mutation has a unique phenotypeDOI 10.1101/2023.03.01.530650Read

Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype.Semantic proximity Read

CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis.Semantic proximity Read

Mutation discovered in a feline model of human congenital retinal blinding disease.Semantic proximity Read

Canine and Feline Models of Inherited Retinal Diseases.Semantic proximity Read

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.Semantic proximity Read

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.Semantic proximity Read

Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.Semantic proximity Read

Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasisSemantic proximity Read

Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8Semantic proximity Read

FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.Semantic proximity Read

Cats: a gold mine for ophthalmology.Semantic proximity Read

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.Semantic proximity Read