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Gene: Chrnb4 MGI:87892

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Gene Summary

Name:
cholinergic receptor, nicotinic, beta polypeptide 4
Synonyms:
Acrb-4,  Acrb4

Order Alleles

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
increased grip strength Chrnb4em1(IMPC)H HOM Early adult 1.67×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Chrnb4 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 Chrnb4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Spastic Paraplegia 13, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:605280
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Spastic Paraplegia 19, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604805
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Autosomal Dominant Spastic Paraplegia Type 13
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:100994
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Spastic Paraplegia 8, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:600363
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:613096
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Spastic Paraplegia 3, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:182600
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607565
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria ORPHA:284400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Spastic Paraplegia 10, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604187
Paraparetic Variant Of Guillain-Barré Syndrome
Urinary bladder sphincter dysfunction ORPHA:231445
Spastic Paraplegia 4, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:182601
Spastic Paraplegia 16, X-Linked
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:300266
Spinocerebellar Ataxia Type 25
Urinary urgency ORPHA:101111
Isolated Epispadias
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence ORPHA:93928
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:306511
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Autosomal Dominant Spastic Paraplegia Type 73
Urinary urgency, Urinary incontinence ORPHA:444099
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia OMIM:609727
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:206583
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder ORPHA:71211
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Urinary incontinence ORPHA:320365
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis OMIM:613670
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy ORPHA:69076
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Spastic Paraplegia 11, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604360
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
Autosomal Dominant Spastic Paraplegia Type 8
Urinary urgency, Urinary incontinence ORPHA:100989
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence OMIM:616795
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Urinary incontinence OMIM:612319
Spastic Paraplegia 7, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607259
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency ORPHA:171612
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder ORPHA:100996
Spastic Paraplegia 15, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:270700
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Central Diabetes Insipidus
Nocturia ORPHA:178029
Foix-Alajouanine Syndrome
Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Urinary incontinence ORPHA:79093
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder OMIM:611390
Spastic Paraplegia Type 2
Spastic/hyperactive bladder ORPHA:99015
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Spinocerebellar Ataxia 25
Urinary urgency OMIM:608703
Pure Autonomic Failure
Dysuria, Urinary incontinence ORPHA:441
Spastic Paraplegia Type 7
Urinary urgency ORPHA:99013
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Arachnoiditis
Urinary bladder sphincter dysfunction ORPHA:137817
Pandas
Enuresis ORPHA:66624
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration... ORPHA:199343
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Abnormality of the kidney ORPHA:53721
Autosomal Dominant Spastic Paraplegia Type 12
Urinary urgency, Urinary incontinence ORPHA:100993
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... ORPHA:85450
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency OMIM:601338
Porphyria, Acute Intermittent
Dysuria, Urinary retention, Urinary incontinence, Elevated urinary delta-aminolevulinic acid OMIM:176000
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Cln3 Disease
Urinary bladder sphincter dysfunction ORPHA:228346
Spinocerebellar Ataxia 10
Urinary urgency, Urinary incontinence OMIM:603516
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary urgency, Urinary incontinence OMIM:606071
Autosomal Dominant Spastic Paraplegia Type 10
Urinary urgency, Spastic/hyperactive bladder ORPHA:100991
Blepharophimosis-Impaired Intellectual Development Syndrome
Enuresis, Recurrent urinary tract infections, Hypospadias OMIM:619293
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence ORPHA:466722
Alexander Disease Type Ii
Urinary bladder sphincter dysfunction ORPHA:363722
Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:300100
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency OMIM:619621
Spastic Paraplegia 20, Autosomal Recessive
Urinary urgency OMIM:275900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction ORPHA:52430
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting OMIM:612780
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:43
Spinocerebellar Ataxia Type 13
Urinary urgency, Urinary incontinence ORPHA:98768
Spinocerebellar Ataxia, Autosomal Recessive 7
Urinary urgency OMIM:609270
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:183090
Spinocerebellar Ataxia Type 42
Urinary urgency, Urinary incontinence ORPHA:458803
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:601162
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary urgency, Pollakisuria, Urinary incontinence ORPHA:447753
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal potassium wasting OMIM:263800
Urachal Cyst
Hematuria, Urachus fistula, Dysuria, Pyuria ORPHA:488
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis ORPHA:589821
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Adrenomyeloneuropathy
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary retention, Urinary incontinence ORPHA:139399
Machado-Joseph Disease
Urinary bladder sphincter dysfunction OMIM:109150
Pelizaeus-Merzbacher Disease
Urinary urgency OMIM:312080
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Perineural Cyst
Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:65250
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Orthostatic Hypotension 1
Nocturia OMIM:223360
Spinocerebellar Ataxia 1
Urinary bladder sphincter dysfunction OMIM:164400
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Urinary incontinence OMIM:146500
Tenorio Syndrome
Enuresis OMIM:616260
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Nocturia ORPHA:230
Friedreich Ataxia
Urinary bladder sphincter dysfunction ORPHA:95
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction ORPHA:93256
Citrullinemia Type Ii
Enuresis ORPHA:247585
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... ORPHA:358
Arachnoid Cyst
Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:2356
Superficial Siderosis
Functional abnormality of the bladder ORPHA:247245
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary urgency, Recurrent urinary tract infections, Urinary retention ORPHA:99027
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder ORPHA:411602
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension ORPHA:391487
Acute Transverse Myelitis
Urinary bladder sphincter dysfunction, Urinary retention, Urinary incontinence ORPHA:139417
Autosomal Dominant Progressive External Ophthalmoplegia
Nocturia ORPHA:254892
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Abnormality ... ORPHA:79408
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis ORPHA:369950
Isolated Posterior Meningocele
Enuresis ORPHA:268810
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... OMIM:194050
Parkinson Disease 14, Autosomal Recessive
Nocturia OMIM:612953
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Micropenis, Pelvic kidney, Unilateral renal agenesis OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis ORPHA:293987
Alström Syndrome
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... ORPHA:64

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 Chrnb4

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 Chrnb4.

No publications found that use IMPC mice or data for Chrnb4.

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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
Chrnb4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chrnb4em2(IMPC)H Exon Deletion Mice
Chrnb4em1(IMPC)H Exon Deletion Mice

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