List of works - Helmut Fuchs

"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?

scientific article published in May 2008

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

scientific article

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

scientific article

A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes

scientific article published on 14 February 2020

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

article

A novel N-ethyl-N-nitrosourea-induced mutation in phospholipase Cγ2 causes inflammatory arthritis, metabolic defects, and male infertility in vitro in a murine model

article

A robust and reliable non-invasive test for stress responsivity in mice

scientific article

A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons

scientific article published on 13 February 2020

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders

scientific article

Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments

scientific article

Analysis of locomotor behavior in the German Mouse Clinic

scientific article published on 05 May 2017

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

scientific article

Assessing Cognition in Mice

scientific article published on 2 December 2015

CIN85 regulates dopamine receptor endocytosis and governs behaviour in mice

scientific article

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms

scientific article

Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice

scientific article published on 16 January 2019

Conditional Reduction of Adult Born Doublecortin-Positive Neurons Reversibly Impairs Selective Behaviors

scientific article

Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice

Defective immuno- and thymoproteasome assembly causes severe immunodeficiency.

scientific article published on 13 April 2018

Diabetes type 2 risk gene Dusp8 is associated with altered sucrose reward behavior in mice and humans

scientific article published on 01 November 2020

Diet-induced and mono-genetic obesity alter volatile organic compound signature in mice

scientific article published on 10 February 2016

Dietary intervention improves health metrics and life expectancy of the genetically obese Titan mouse

scientific article published on 03 May 2022

Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes

scientific journal article

Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines

scientific journal article

Dusp8 affects hippocampal size and behavior in mice and humans

scientific article published on 20 December 2019

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

scientific article published on 31 January 2020

Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice.

scientific article

Extensive phenotypic characterization of a new transgenic mouse reveals pleiotropic perturbations in physiology due to mesenchymal hGH minigene expression

scientific article

Fgf9 (Y162C) Mutation Alters Information Processing and Social Memory in Mice

scientific article published on 10 July 2017

Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3L423P Mutant Mice

scientific article

Generation and characterization of dickkopf3 mutant mice

scientific article

Genetically Controlled Lysosomal Entrapment of Superparamagnetic Ferritin for Multimodal and Multiscale Imaging and Actuation with Low Tissue Attenuation

High mobility group N proteins modulate the fidelity of the cellular transcriptional profile in a tissue- and variant-specific manner

scientific article

High-throughput phenotypic assessment of cardiac physiology in four commonly used inbred mouse strains

scientific article published in May 2014

Human and mouse essentiality screens as a resource for disease gene discovery

scientific article published on 31 January 2020

Identification of genetic elements in metabolism by high-throughput mouse phenotyping

scientific article published on 18 January 2018

In vitro analysis of bone phenotypes in Col1a1 and Jagged1 mutant mice using a standardized osteoblast cell culture system

article

In vivo functional requirement of the mouse Ifitm1 gene for germ cell development, interferon mediated immune response and somitogenesis

scientific article

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

scientific article published on 23 November 2019

Increased estrogen to androgen ratio enhances immunoglobulin levels and impairs B cell function in male mice

scientific article published on 27 October 2020

Innovations in phenotyping of mouse models in the German Mouse Clinic

scientific article

Interplay between H1 and HMGN epigenetically regulates OLIG1&2 expression and oligodendrocyte differentiation.

scientific article

Introducing the German Mouse Clinic: open access platform for standardized phenotyping

scientific article

Irp2 regulates insulin production through iron-mediated Cdkal1-catalyzed tRNA modification

scientific article published on 15 January 2020

Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data

scientific article

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

scientific article

Long-term proteasomal inhibition in transgenic mice by UBB(+1) expression results in dysfunction of central respiration control reminiscent of brainstem neuropathology in Alzheimer patients

scientific article

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase (TPI) deficiency

scientific article published on 11 June 2019

MIM-Induced Membrane Bending Promotes Dendritic Spine Initiation

scientific article published on 4 June 2015

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

scientific article

Male offspring born to mildly ZIKV-infected mice are at risk of developing neurocognitive disorders in adulthood

scientific article published on 10 September 2018

Meis1: effects on motor phenotypes and the sensorimotor system in mice

scientific article published on 23 June 2017

Mesenchymal TNFR2 promotes the development of polyarthritis and comorbid heart valve stenosis.

scientific article

MiR-34a deficiency accelerates medulloblastoma formation in vivo

scientific article

Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice

scientific article published on 22 December 2009

Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.

scientific article

Mouse Genetics and Metabolic Mouse Phenotyping

article

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

scientific article published on 28 December 2020

Mouse phenotyping

scientific article

Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia

article

Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans

scientific article

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

article

Offspring born to influenza A virus infected pregnant mice have increased susceptibility to viral and bacterial infections in early life

scientific article published on 16 August 2021

Pleiotropic effects in Eya3 knockout mice

scientific article

Pleiotropic functions for transcription factor zscan10.

scientific article

RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid-Mediated Autoinflammation.

scientific article

Rapamycin extends murine lifespan but has limited effects on aging

scientific article

Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice

scientific article

Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

scientific journal article

Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms

scientific article published on 2 December 2016

Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice

scientific article

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

scientific article published on 13 April 2017

Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes

scientific article published on 20 July 2012

Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice

scientific article published on 17 August 2017

Systemic first-line phenotyping

scientific article published on January 2009

Targeted disruption of the mouse Npal3 gene leads to deficits in behavior, increased IgE levels, and impaired lung function

scientific journal article

Tests for Anxiety-Related Behavior in Mice

scientific article published on 2 December 2015

The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.

scientific article

The German Mouse Clinic: a platform for systemic phenotype analysis of mouse models.

scientific article

The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour

scientific journal article

The rRNA m6A methyltransferase METTL5 is involved in pluripotency and developmental programs

scientific article published on 26 March 2020

Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic

scientific article

Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation

scientific article

List of works by Helmut Fuchs

"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

A novel N-ethyl-N-nitrosourea-induced mutation in phospholipase Cγ2 causes inflammatory arthritis, metabolic defects, and male infertility in vitro in a murine model

A robust and reliable non-invasive test for stress responsivity in mice

A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders

Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments

Analysis of locomotor behavior in the German Mouse Clinic

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Assessing Cognition in Mice

CIN85 regulates dopamine receptor endocytosis and governs behaviour in mice

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms

Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice

Conditional Reduction of Adult Born Doublecortin-Positive Neurons Reversibly Impairs Selective Behaviors

Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice

Defective immuno- and thymoproteasome assembly causes severe immunodeficiency.

Diabetes type 2 risk gene Dusp8 is associated with altered sucrose reward behavior in mice and humans

Diet-induced and mono-genetic obesity alter volatile organic compound signature in mice

Dietary intervention improves health metrics and life expectancy of the genetically obese Titan mouse

Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes

Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines

Dusp8 affects hippocampal size and behavior in mice and humans

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice.

Extensive phenotypic characterization of a new transgenic mouse reveals pleiotropic perturbations in physiology due to mesenchymal hGH minigene expression

Fgf9 (Y162C) Mutation Alters Information Processing and Social Memory in Mice

Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3L423P Mutant Mice

Generation and characterization of dickkopf3 mutant mice

Genetically Controlled Lysosomal Entrapment of Superparamagnetic Ferritin for Multimodal and Multiscale Imaging and Actuation with Low Tissue Attenuation

High mobility group N proteins modulate the fidelity of the cellular transcriptional profile in a tissue- and variant-specific manner

High-throughput phenotypic assessment of cardiac physiology in four commonly used inbred mouse strains

Human and mouse essentiality screens as a resource for disease gene discovery

Identification of genetic elements in metabolism by high-throughput mouse phenotyping

In vitro analysis of bone phenotypes in Col1a1 and Jagged1 mutant mice using a standardized osteoblast cell culture system

In vivo functional requirement of the mouse Ifitm1 gene for germ cell development, interferon mediated immune response and somitogenesis

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

Increased estrogen to androgen ratio enhances immunoglobulin levels and impairs B cell function in male mice

Innovations in phenotyping of mouse models in the German Mouse Clinic

Interplay between H1 and HMGN epigenetically regulates OLIG1&2 expression and oligodendrocyte differentiation.

Introducing the German Mouse Clinic: open access platform for standardized phenotyping

Irp2 regulates insulin production through iron-mediated Cdkal1-catalyzed tRNA modification

Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

Long-term proteasomal inhibition in transgenic mice by UBB(+1) expression results in dysfunction of central respiration control reminiscent of brainstem neuropathology in Alzheimer patients

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase (TPI) deficiency

MIM-Induced Membrane Bending Promotes Dendritic Spine Initiation

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

Male offspring born to mildly ZIKV-infected mice are at risk of developing neurocognitive disorders in adulthood

Meis1: effects on motor phenotypes and the sensorimotor system in mice

Mesenchymal TNFR2 promotes the development of polyarthritis and comorbid heart valve stenosis.

MiR-34a deficiency accelerates medulloblastoma formation in vivo

Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice

Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.

Mouse Genetics and Metabolic Mouse Phenotyping

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

Mouse phenotyping

Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia

Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

Offspring born to influenza A virus infected pregnant mice have increased susceptibility to viral and bacterial infections in early life

Pleiotropic effects in Eya3 knockout mice

Pleiotropic functions for transcription factor zscan10.

RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid-Mediated Autoinflammation.

Rapamycin extends murine lifespan but has limited effects on aging

Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice

Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms

Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes

Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice

Systemic first-line phenotyping

Targeted disruption of the mouse Npal3 gene leads to deficits in behavior, increased IgE levels, and impaired lung function

Tests for Anxiety-Related Behavior in Mice

The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.

The German Mouse Clinic: a platform for systemic phenotype analysis of mouse models.