ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.

PubWeight™: 0.87‹?›

🔗 View Article (PMC 2817753)

Published in PLoS One on February 09, 2010

Authors

Gaynor Miller1, Monica Neilan, Ruth Chia, Nabeia Gheryani, Natalie Holt, Annabelle Charbit, Sara Wells, Valter Tucci, Zuzanne Lalanne, Paul Denny, Elizabeth M C Fisher, Michael Cheeseman, Graham N Askew, T Neil Dear

Author Affiliations

1: Mammalian Genetics of Disease Unit, School of Medicine, University of Sheffield, Sheffield, United Kingdom.

Articles cited by this

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (1991) 11.44

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet (1997) 2.98

EuroPhenome and EMPReSS: online mouse phenotyping resource. Nucleic Acids Res (2007) 2.54

Regulation of limb patterning by extracellular microfibrils. J Cell Biol (2001) 2.37

Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet (2007) 2.16

Introducing the German Mouse Clinic: open access platform for standardized phenotyping. Nat Methods (2005) 1.93

A gene-driven ENU-based approach to generating an allelic series in any gene. Mamm Genome (2004) 1.82

Appearances can be deceiving: phenotypes of knockout mice. Brief Funct Genomic Proteomic (2007) 1.73

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet (1995) 1.57

Muscle strength and body composition in adult women with Marfan syndrome. Rheumatology (Oxford) (2007) 1.47

Extracellular microfibrils in vertebrate development and disease processes. J Biol Chem (2009) 1.34

Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmd(mdx) and Dmd(mdx3cv) dystrophin-deficient mice. Mamm Genome (2000) 1.23

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet (2001) 1.09

Distribution of the elastic fiber and associated proteins in flexor tendon reflects function. Anat Rec (2002) 1.06

Thermal dependence of contractile properties of skeletal muscle from the lizard Sceloporus occidentalis with comments on methods for fitting and comparing force-velocity curves. J Exp Biol (1986) 1.02

Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse. Environ Mol Mutagen (2007) 1.01

The effects of length trajectory on the mechanical power output of mouse skeletal muscles. J Exp Biol (1997) 1.01

The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Mamm Genome (1998) 0.98

Estimating the number of coding mutations in genotypic and phenotypic driven N-ethyl-N-nitrosourea (ENU) screens: revisited. Mamm Genome (2007) 0.95

Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity? Clin Neurol Neurosurg (1997) 0.93

Congenital contractural arachnodactyly (Beals syndrome). J Med Genet (1994) 0.92

Bone and soft connective tissue alterations result from loss of fibrillin-2 expression. Matrix Biol (2008) 0.91

Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells. Genomics (2001) 0.89

Reaching and grasping phenotypes in the mouse (Mus musculus): a characterization of inbred strains and mutant lines. Neuroscience (2007) 0.87

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. Arq Neuropsiquiatr (2001) 0.84

Muscle fibrillin deficiency in Marfan's syndrome myopathy. J Neurol Neurosurg Psychiatry (2003) 0.83

Mapping of the porcine FBN2, YWHAQ, CNN3, DCN, POSTN, SPARC, RBM39 and GNAS genes, expressed in foetal skeletal muscles. Anim Genet (2007) 0.78

Articles by these authors

A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet (2009) 5.01

Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science (2003) 4.40

Overexpression of Fto leads to increased food intake and results in obesity. Nat Genet (2010) 4.37

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol (2007) 4.30

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet (2005) 4.21

Species-specific transcription in mice carrying human chromosome 21. Science (2008) 4.03

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science (2005) 3.61

Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science (2003) 3.59

The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period. Science (2007) 3.05

Sound-driven synaptic inhibition in primary visual cortex. Neuron (2012) 2.84

EuroPhenome: a repository for high-throughput mouse phenotyping data. Nucleic Acids Res (2009) 2.72

Interleukin 6 and interleukin 8 as potential biomarkers for oral cavity and oropharyngeal squamous cell carcinoma. Arch Otolaryngol Head Neck Surg (2004) 2.46

Genetic analysis of the cytoplasmic dynein subunit families. PLoS Genet (2006) 2.35

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30

The origins and uses of mouse outbred stocks. Nat Genet (2005) 2.19

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. Mamm Genome (2012) 2.12

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep (2012) 2.09

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Genome Biol (2013) 2.04

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. J Cell Biol (2005) 2.01

Down syndrome--recent progress and future prospects. Hum Mol Genet (2009) 1.85

A gene-driven ENU-based approach to generating an allelic series in any gene. Mamm Genome (2004) 1.82

Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study. Physiol Genomics (2008) 1.76

Appearances can be deceiving: phenotypes of knockout mice. Brief Funct Genomic Proteomic (2007) 1.73

Cytoplasmic dynein nomenclature. J Cell Biol (2005) 1.71

Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data. BMC Bioinformatics (2009) 1.70

Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. Nature (2010) 1.70

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A (2009) 1.66

ENU mutagenesis, a way forward to understand gene function. Annu Rev Genomics Hum Genet (2008) 1.59

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proc Natl Acad Sci U S A (2014) 1.53

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet (2008) 1.45

TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander. Mamm Genome (2008) 1.44

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol (2013) 1.41

Layer-specific excitatory circuits differentially control recurrent network dynamics in the neocortex. Nat Neurosci (2013) 1.39

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet (2010) 1.35

A comprehensive transcript map of the mouse Gnas imprinted complex. Genome Res (2003) 1.32

Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice. Neurogenetics (2002) 1.31

Adult onset global loss of the fto gene alters body composition and metabolism in the mouse. PLoS Genet (2013) 1.31

Genetic analyses reveal a requirement for Dicer1 in the mouse urogenital tract. Mamm Genome (2009) 1.31

Down syndrome: searching for the genetic culprits. Dis Model Mech (2011) 1.28

The relationship between preoperative and primary care blood pressure among veterans presenting from home for surgery: is there evidence for anesthesiologist-initiated blood pressure referral? Anesth Analg (2011) 1.27

Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis. PLoS One (2010) 1.25

Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster. PLoS Genet (2011) 1.23

Development and function of the mammalian spleen. Bioessays (2007) 1.23

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Dis Model Mech (2009) 1.22

Mechanistic basis of infertility of mouse intersubspecific hybrids. Proc Natl Acad Sci U S A (2013) 1.20

Genomically humanized mice: technologies and promises. Nat Rev Genet (2011) 1.18

Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome. Learn Mem (2008) 1.18

Regulatory variation at glypican-3 underlies a major growth QTL in mice. PLoS Biol (2005) 1.18

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments. Mamm Genome (2011) 1.17

Rodent models of amyotrophic lateral sclerosis. Biochim Biophys Acta (2013) 1.17

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse. Cardiovasc Res (2010) 1.13

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy. PLoS Genet (2010) 1.13

A mutation in the F-box gene, Fbxo11, causes otitis media in the Jeff mouse. Hum Mol Genet (2006) 1.13

Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse. Genome Res (2004) 1.12

Cognitive aging in zebrafish. PLoS One (2006) 1.12

The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation. Biochem J (2012) 1.11

IkappaB genetic polymorphisms and invasive pneumococcal disease. Am J Respir Crit Care Med (2007) 1.11

Differentially expressed protein markers in human submandibular and sublingual secretions. Int J Oncol (2004) 1.11

Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination. PLoS Biol (2009) 1.10

Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease? BMC Med (2012) 1.10

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome. PLoS One (2013) 1.10

Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome. Hum Mol Genet (2009) 1.09

Cytoplasmic dynein heavy chain: the servant of many masters. Trends Neurosci (2013) 1.09

Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. Blood (2010) 1.08

Detection of picomolar levels of interleukin-8 in human saliva by SPR. Lab Chip (2005) 1.08

Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages. Lab Anim (2010) 1.07

Lithium rescues synaptic plasticity and memory in Down syndrome mice. J Clin Invest (2012) 1.07

Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci U S A (2005) 1.07

The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear. BMC Dev Biol (2010) 1.06

Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain (2013) 1.05

A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis. Dis Model Mech (2011) 1.05

Quiet mutations in inbred strains of mice. Trends Mol Med (2007) 1.05

Modification of superoxide dismutase 1 (SOD1) properties by a GFP tag--implications for research into amyotrophic lateral sclerosis (ALS). PLoS One (2010) 1.05

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest (2014) 1.04

Sfrp1 and Sfrp2 are required for normal male sexual development in mice. Dev Biol (2008) 1.04

Comparison of human chromosome 6p25 with mouse chromosome 13 reveals a greatly expanded ov-serpin gene repertoire in the mouse. Genomics (2002) 1.03

Microcell-mediated chromosome transfer (MMCT): small cells with huge potential. Mamm Genome (2003) 1.03

Differential effects of genotoxic stress on both concurrent body growth and gradual senescence in the adult zebrafish. Aging Cell (2007) 1.02

Mouse models for neurological disease. Lancet Neurol (2002) 1.02

Cytoplasmic dynein could be key to understanding neurodegeneration. Genome Biol (2008) 1.02

T regulatory cells control susceptibility to invasive pneumococcal pneumonia in mice. PLoS Pathog (2012) 1.01

Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse. Environ Mol Mutagen (2007) 1.01

HIF-VEGF pathways are critical for chronic otitis media in Junbo and Jeff mouse mutants. PLoS Genet (2011) 0.99

An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. Physiol Genomics (2007) 0.99

Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain (2007) 0.98