ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2003
A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
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Who cites it
38 citing papers in PubMed, 72 citations in OpenAlex.
- HSP25 and HSP25-P-Ser15 Prompt Innate Neuroprotection in Lobe X of the Cerebellum.International journal of molecular sciences · 2026Article
- Transcriptional elongation control in developmental gene expression, aging, and disease.Molecular cell · 2023Review
- Massive Loss of Transcription Factors Promotes the Initial Diversification of Placental Mammals.International journal of molecular sciences · 2022Article
- In Search of Molecular Markers for Cerebellar Neurons.International journal of molecular sciences · 2021Review
- Behavioural Characterisation ofCells · 2021Article
- AFF1 inhibits adipogenic differentiation via targeting TGM2 transcription.Cell proliferation · 2020Article
- High-throughput mouse phenomics for characterizing mammalian gene function.Nature reviews. Genetics · 2018Review
- Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease.PLoS genetics · 2016Article
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.Nature genetics · 2015Article
- Ectopic cerebellar cell migration causes maldevelopment of Purkinje cells and abnormal motor behaviour in Cxcr4 null mice.PloS one · 2014Article
- Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex.PloS one · 2014Article
- New insights into behaviour using mouse ENU mutagenesis.Human molecular genetics · 2012Review
- Regulation of AMP-activated protein kinase signaling by AFF4 protein, member of AF4 (ALL1-fused gene from chromosome 4) family of transcription factors, in hypothalamic neurons.The Journal of biological chemistry · 2012Article
- The locus for an inherited cataract in sheep maps to ovine chromosome 6.Molecular vision · 2012Article
- Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.Neuroscience · 2011Article
- Oxr1 is essential for protection against oxidative stress-induced neurodegeneration.PLoS genetics · 2011Article
- A transcriptomic atlas of mouse neocortical layers.Neuron · 2011Article
- Protein network study of human AF4 reveals its central role in RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms.The Biochemical journal · 2011Article
- Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain.PLoS genetics · 2011Article
- Identification and characterisation of a Maf1/Macoco protein complex that interacts with GABAA receptors in neurons.Molecular and cellular neurosciences · 2010Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
Abstract
The robotic mouse is an autosomal dominant mutant that arose from a large-scale chemical mutagenesis program. It has a jerky, ataxic gait and develops adult-onset Purkinje cell loss in the cerebellum in a striking region-specific pattern, as well as cataracts. Genetic and physical mapping of the disease locus led to the identification of a missense mutation in a highly conserved region of Af4, a putative transcription factor that has been previously implicated in leukemogenesis. We demonstrate that Af4 is specifically expressed in Purkinje cells, and we hypothesize that the expression of mutant Af4 leads to neurodegeneration. This function was not identified through knock-out studies, highlighting the power of phenotype-driven mutagenesis in the mouse to identify new pathways involved in neurological disease.
Indexed as
Identifiers
12629167PMC6741966W2145654223What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.