Gene Summary

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

IMPC Data Collections

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.

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

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
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... 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 incontinence, Urinary bladder sphincter dysfunction, Urinary urgency OMIM:605280
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Urinary urgency ORPHA:100985
Spastic Paraplegia 72A, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:615625
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Pollakisuria, Vesicoureteral reflux, Congenital posterior urethral valve, U... OMIM:618612
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency OMIM:607152
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency OMIM:604805
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ... OMIM:236730
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency ORPHA:100994
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency OMIM:600363
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
Interstitial Cystitis
Abnormality of the bladder, Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the... ORPHA:37202
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182600
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency OMIM:607565
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604187
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency ORPHA:444099
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182601
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:300266
Spinocerebellar Ataxia Type 25
Urinary urgency ORPHA:101111
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:306511
Isolated Epispadias
Epispadias, Urinary incontinence, Anteriorly displaced urethral meatus, Vesicoureteral reflux ORPHA:93928
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Nocturia, Urinary hesitancy, Urinary urgency OMIM:609727
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:206583
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Urinary incontinence, Dysuria, Abnormality of the urethra ORPHA:2795
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder ORPHA:71211
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
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur... ORPHA:79233
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Primary Hyperoxaluria Type 1
Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent urinary tract infection... ORPHA:93598
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency ORPHA:100989
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency ORPHA:171612
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604360
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... ORPHA:223
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency OMIM:616795
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607259
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder ORPHA:100996
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:270700
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Central Diabetes Insipidus
Nocturia ORPHA:178029
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Neurogenic bladder, Urinary incontinence, Urinary retention ORPHA:79093
Spastic Paraplegia Type 2
Spastic/hyperactive bladder ORPHA:99015
Spastic Ataxia 3, Autosomal Recessive
Neurogenic bladder, Urinary urgency OMIM:611390
Spinocerebellar Ataxia 25
Urinary urgency OMIM:608703
Pure Autonomic Failure
Urinary incontinence, Dysuria ORPHA:441
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Urinary urgency ORPHA:100993
Spastic Paraplegia Type 7
Urinary urgency ORPHA:99013
Pandas
Enuresis ORPHA:66624
Enamel-Renal Syndrome
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... ORPHA:1031
Arachnoiditis
Urinary bladder sphincter dysfunction ORPHA:137817
East Syndrome
Renal salt wasting, Enuresis, Renal sodium wasting, Renal magnesium wasting, Abnormal urinary ele... ORPHA:199343
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Urinary bladder sphincter dysfunction ORPHA:53721
Narcolepsy Type 1
Nocturia ORPHA:2073
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Urinary bladder inflammation ORPHA:556
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased glomerular filtration rate, Tubulointerstitial fib... ORPHA:85450
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Pudendal Neuralgia
Pollakisuria, Dysuria ORPHA:60039
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary retention, Urinary incontinence, Dysuria OMIM:176000
Distal Deletion 10Q
Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional abnormality of the bladder, Hors... ORPHA:96148
Spinal Cord Injury
Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Autosomal Dominant Spastic Paraplegia Type 10
Spastic/hyperactive bladder, Urinary urgency ORPHA:100991
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency OMIM:603516
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency OMIM:601338
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency OMIM:606071
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Neurogenic bladder, Urinary incontinence ORPHA:466722
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent urinary tract infections, Hypospadias, Enuresis OMIM:619293
Adrenoleukodystrophy
Urinary incontinence, Urinary bladder sphincter dysfunction OMIM:300100
Alexander Disease Type Ii
Urinary bladder sphincter dysfunction ORPHA:363722
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Spastic Paraplegia 20, Autosomal Recessive
Urinary urgency OMIM:275900
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency OMIM:619621
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction ORPHA:52430
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:43
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Renal sodium wasting OMIM:612780
Spinocerebellar Ataxia Type 13
Urinary incontinence, Urinary urgency ORPHA:98768
Spinocerebellar Ataxia, Autosomal Recessive 7
Urinary urgency OMIM:609270
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
Spinocerebellar Ataxia Type 42
Urinary incontinence, Urinary urgency ORPHA:458803
Spinocerebellar Ataxia 2
Urinary incontinence, Urinary bladder sphincter dysfunction OMIM:183090
Spastic Paraplegia 9A, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:601162
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Proximal tubulopathy, Organic aciduria, Medullary nephrocalcinosi... OMIM:619743
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis ORPHA:459061
Autosomal Dominant Spastic Paraplegia Type 9A
Pollakisuria, Urinary incontinence, Urinary urgency ORPHA:447753
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney, Nephrolithiasis ORPHA:2953
Urachal Cyst
Urachus fistula, Dysuria, Hematuria, Pyuria ORPHA:488
Gitelman Syndrome
Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Nocturia, Renal magnesium wasting OMIM:263800
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis ORPHA:589821
Pelizaeus-Merzbacher Disease
Urinary urgency OMIM:312080
Machado-Joseph Disease
Urinary bladder sphincter dysfunction OMIM:109150
Adrenomyeloneuropathy
Urinary retention, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:139399
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Spinocerebellar Ataxia 1
Urinary bladder sphincter dysfunction OMIM:164400
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Urinary urgency OMIM:146500
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Tenorio Syndrome
Enuresis OMIM:616260
Orthostatic Hypotension 1
Nocturia OMIM:223360
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Nocturia ORPHA:230
Friedreich Ataxia
Urinary bladder sphincter dysfunction ORPHA:95
Citrullinemia Type Ii
Enuresis ORPHA:247585
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction ORPHA:93256
Gitelman Syndrome
Urinary incontinence, Renal tubular acidosis, Renal potassium wasting, Focal segmental glomerulos... ORPHA:358
Arachnoid Cyst
Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:2356
Superficial Siderosis
Functional abnormality of the bladder ORPHA:247245
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Urinary retention, Urinary urgency ORPHA:99027
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias, Enuresis ORPHA:96121
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renovascular hypertension, Renal artery stenosis ORPHA:391487
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder ORPHA:411602
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Abnormality of the urinary system, Urinary bladder sphincter dysfunction,... ORPHA:79408
Acute Transverse Myelitis
Urinary retention, Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:139417
Autosomal Dominant Progressive External Ophthalmoplegia
Nocturia ORPHA:254892
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Rena... OMIM:619522
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis ORPHA:369950
Isolated Posterior Meningocele
Enuresis ORPHA:268810
Williams-Beuren Syndrome
Renal insufficiency, Hypercalciuria, Pelvic kidney, Abnormal renal morphology, Vesicoureteral ref... OMIM:194050
Parkinson Disease 14, Autosomal Recessive
Nocturia OMIM:612953
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Pelvic kidney, Micropenis, Unilateral renal agenesis, Urinary urgency OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis ORPHA:293987
Alström Syndrome
Detrusor sphincter dyssynergia, Urinary incontinence, Recurrent urinary tract infections, 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.

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
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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