Article

Targeted deletion of <i>Nmnat1</i> in mouse retina leads to early severe retinal dystrophy

2017-10-29

Abstract excerpt

Mutations in NMNAT1 can lead to a very severe type of retinal dystrophy, Leber congenital amaurosis, in human patients, characterized by infantile-onset or congenital retinal dystrophy and childhood blindness. The loss-of-function mouse models of Nmnat1 have not been well-established, since the complete knock-out (KO) of Nmnat1 in mice results in embryonic lethality. Here, we generated retina-specific KO by usi...

Topics

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

Identifiers and source

Literature Corpus work: c069db65-4c84-5001-8fdb-582900d3a7ce
DOI: 10.1101/210757

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Targeted deletion of <i>Nmnat1</i> in mouse retina leads to early severe retinal dystrophyDOI 10.1101/210757Read

NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.Semantic proximity Read

Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development.Semantic proximity Read

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.Semantic proximity Read

Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis.Semantic proximity Read

Expression of NMNAT1 in the Photoreceptors is Sufficient to Prevent <i>NMNAT1</i> -Associated DiseaseSemantic proximity Read

Rod-genesis driven by <i>mafba</i> in an <i>nrl</i> knockout zebrafish model with altered photoreceptor compositions and progressive retinal degenerationSemantic proximity Read

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

Retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGA1.Semantic proximity Read

EML1 is essential for retinal photoreceptor migration and survival.Semantic proximity Read

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosisSemantic proximity Read

NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.Semantic proximity Read

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