Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cholinergic receptor, nicotinic, beta polypeptide 3
Synonyms:
5730417K16Rik,  Acrb3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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.

Phenotype associated images not available

Human diseases caused by Chrnb3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Chrnb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:615924
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Broad-based gait OMIM:619470
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:612716
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Morm Syndrome
Hyperactivity ORPHA:75858
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait ORPHA:3077
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Hyperactivity, Inability to walk OMIM:618718
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Cln5 Disease
Dysmetria, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, ... ORPHA:228360
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... OMIM:608643
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Gand Syndrome
Hyperactivity OMIM:615074
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Histidinemia
Hyperactivity ORPHA:2157
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder ORPHA:1942
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... ORPHA:845
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus OMIM:103050
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Angelman Syndrome
Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait OMIM:105830
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Tremor, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Citrullinemia Type Ii
Tremor, Hyperactivity, Lethargy ORPHA:247585
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Hyperlysinemia
Opisthotonus, Dysmetria, Tremor, Hyperactivity, Tip-toe gait ORPHA:2203
Brain-Lung-Thyroid Syndrome
Dystonia, Falls, Intention tremor, Hyperactivity, Ataxia ORPHA:209905
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Early Infantile Epileptic Encephalopathy
Hyperactivity, Dystonia, Tremor, Episodic ataxia ORPHA:1934
Choreoacanthocytosis
Head titubation, Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Falls, Bradykinesi... ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522

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 Chrnb3

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 Chrnb3.

No publications found that use IMPC mice or data for Chrnb3.

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MGI Allele Allele Type Produced
Chrnb3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chrnb3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chrnb3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Chrnb3tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Chrnb3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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