Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.

Molecular and cellular biology - 1 Apr 2012

Schmouth J-F, Banks K G, Mathelier A, Gregory-Evans C Y, Castellarin M, Holt R A, Gregory-Evans K, Wasserman W W, Simpson E M

Abstract excerpt

Nr2e1 encodes a stem cell fate determinant of the mouse forebrain and retina. Abnormal regulation of this gene results in retinal, brain, and behavioral abnormalities in mice. However, little is known about the functionality of human NR2E1. We investigated this functionality using a novel knock-in humanized-mouse strain carrying a single-copy bacterial artificial chromosome (BAC). We also documented, for the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Gene Expression Regulation, Developmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Knock-In Techniques

Share to Genome

Share to Lac Operon

Share to Orphan Nuclear Receptors

Share to Receptors, Cytoplasmic and Nuclear

Share to Retina

Source

Open in PubMed Open full text

Identifiers

PMID: 22290436
DOI: 10.1128/MCB.06016-11
PMCID: PMC3302440

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.PMID 22290436Read ↗

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.Semantic proximity Read ↗

NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome.Semantic proximity Read ↗

Hyperactivity, startle reactivity and cell-proliferation deficits are resistant to chronic lithium treatment in adult Nr2e1(frc/frc) mice.Semantic proximity Read ↗

Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1.Semantic proximity Read ↗

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.Semantic proximity Read ↗

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.Semantic proximity Read ↗

Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors.Semantic proximity Read ↗

Direct analysis of brain phenotypes via neural blastocyst complementation.Semantic proximity Read ↗

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.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 ↗

Analysis of gene expression in wild-type and Notch1 mutant retinal cells by single cell profiling.Semantic proximity Read ↗

Pou4f2 knock-in Cre mouse: A multifaceted genetic tool for vision researchers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.