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Gene: Atxn3 MGI:1099442

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Gene Summary

Name:
ataxin 3
Synonyms:
Atx3,  Sca3,  ataxin-3,  Mjd,  MJD1,  2210008M02Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating fructosamine level Atxn3tm1a(KOMP)Wtsi HOM Early adult 6.98×10-05
increased circulating aspartate transaminase level Atxn3tm1a(KOMP)Wtsi HOM Early adult 2.62×10-05
increased anti-nuclear antigen antibody level Atxn3tm1a(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

2 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Atxn3tm1a(KOMP)Wtsi
HOM, Male, WTSI
Atxn3tm1a(KOMP)Wtsi
HOM, Male, WTSI
Atxn3tm1a(KOMP)Wtsi
HOM, Male, WTSI
Atxn3tm1a(KOMP)Wtsi
HOM, Female, WTSI
Atxn3tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 70 images

Atxn3tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Atxn3tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI

Human diseases caused by Atxn3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Atxn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Ataxia ORPHA:204
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Gait ataxia, Basal ganglia gliosis, Ataxia, Atrophy/Degeneration involving the caud... ORPHA:225154
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Neuronal loss in central nervous system OMIM:600795
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Gliosis, Neuronal loss in central nervous system OMIM:143100
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Chorea, Astrocytosis, Gait ataxia, Neu... ORPHA:282166
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615889
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy ORPHA:275864
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Ataxia OMIM:617672
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Dysmetria, Atrophy/Degeneration affecting the brainstem, A... OMIM:612319
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Distal sensory impairment, Axonal degeneration OMIM:604484
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervou... OMIM:256600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Limb ataxia, ... OMIM:615157
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysmetria,... OMIM:615491
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral atrophy, Cerebral cortical neurodegeneration, Astrocytosis, Gliosis,... OMIM:203700
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Senile plaques,... OMIM:601104
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Neurodegeneration, Diffuse cerebral atrophy, Cerebellar hypoplasia, Gliosis, ... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system OMIM:616239
Neurodegeneration With Brain Iron Accumulation 5
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy OMIM:300894
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Pontocerebellar atrophy ORPHA:258
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Neurodegeneration, Global brain atrophy, Axonal degeneration ORPHA:478029
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Dysmetria, Dysdiado... OMIM:610217
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Chorea, Cerebral atrophy ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 4
Neurodegeneration, Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia OMIM:614298
Cockayne Syndrome Type 3
Astrocytosis, Cerebellar dentate nucleus calcification, Brain atrophy ORPHA:90324
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Truncal ataxia, Astrocytosis, Dysdiadochokinesis ORPHA:309854
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, C... ORPHA:391428
Adrenoleukodystrophy
Neurodegeneration, Truncal ataxia, Limb ataxia, Impaired vibration sensation at ankles OMIM:300100
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration, Chorea, Choreoathetosis, Ataxia OMIM:606159
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Gliosis, Ataxia OMIM:618321
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Amyotrophic Lateral Sclerosis
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy OMIM:245200
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Limb ataxia, Gliosis,... OMIM:109150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Chiari type I malformation, Cerebellar hypoplasia, Ataxia, Dandy-Walker malfor... OMIM:618476
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Chorea, Cerebral atrophy OMIM:272750
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Olivopontocerebellar atrophy, Ataxia OMIM:146500
Machado-Joseph Disease Type 3
Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra glio... ORPHA:276244
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Neurodegeneration, Gait ataxia, Cerebral atrophy, Ataxia OMIM:616878
Cerebral Visual Impairment
Neurodegeneration, Central nervous system degeneration ORPHA:447788
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Mucopolysaccharidosis, Type Ii
Neurodegeneration OMIM:309900
Machado-Joseph Disease Type 1
Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra glio... ORPHA:276238
Machado-Joseph Disease Type 2
Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra glio... ORPHA:276241
Chediak-Higashi Syndrome
Neurodegeneration, Ataxia OMIM:214500
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Hurler Syndrome
Neurodegeneration OMIM:607014
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Global brain atrophy, Neurodegeneration, Cerebral degeneration, Choreoathetosis OMIM:234200
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Neurodegeneration, Cerebellar vermis hypoplasia, Gliosis, Hypoplasia of the pons OMIM:620455
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma OMIM:251260
Parkinson Disease, Late-Onset
Dementia, Short stepped shuffling gait, Bradykinesia, Depression OMIM:168600
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurodegeneration, Ataxia OMIM:619475
Primrose Syndrome
Neurodegeneration, Ataxia OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atxn3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atxn3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Atxn3tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Atxn3tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Atxn3tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Atxn3tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Atxn3tm1a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Atxn3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Atxn3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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