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 1.65×10-05

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
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction 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 80, Autosomal Dominant
Urinary urgency OMIM:618418
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Interstitial Cystitis
Urinary bladder inflammation, Urinary urgency, Pollakisuria, Functional abnormality of the bladde... ORPHA:37202
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607152
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604805
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Lower Urinary Tract Obstruction, Congenital
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Urinary incontinence, Vesic... OMIM:618612
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:603563
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100994
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:600363
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria OMIM:233100
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604187
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182600
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607565
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hematuria, Dysuria ORPHA:284400
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Spinocerebellar Ataxia 25
Urinary urgency OMIM:608703
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:300266
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
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux OMIM:610805
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Spinocerebellar Ataxia Type 25
Urinary urgency ORPHA:101111
Isolated Epispadias
Urinary incontinence, Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux ORPHA:93928
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Rena... ORPHA:79233
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:306511
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Spastic Paraplegia 29, Autosomal Dominant
Nocturia, Urinary incontinence, Urinary urgency, Urinary hesitancy OMIM:609727
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder ORPHA:71211
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Adult Polyglucosan Body Disease
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:206583
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the urethra, Urinary retention ORPHA:2795
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency OMIM:611390
Mental Retardation With Language Impairment And With Or Without Autistic Features
Enuresis OMIM:613670
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dysuria, Nephro... ORPHA:93598
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency ORPHA:100989
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604360
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency ORPHA:171612
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Anuria, Hypertrophy of the urinary bladder, Dysuria, C... ORPHA:237
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency OMIM:616795
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder ORPHA:100996
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:270700
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency OMIM:603516
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607259
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Urinary incontinence, Urinary retention, Neurogenic bladder ORPHA:79093
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Orthostatic Hypotension 1
Nocturia OMIM:223360
Pure Autonomic Failure
Urinary incontinence, Dysuria ORPHA:441
Pudendal Neuralgia
Pollakisuria, Dysuria ORPHA:60039
Spastic Paraplegia Type 2
Spastic/hyperactive bladder ORPHA:99015
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Urinary urgency ORPHA:100993
Arachnoiditis
Urinary bladder sphincter dysfunction ORPHA:137817
Central Diabetes Insipidus
Nocturia ORPHA:178029
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Urinary bladder sphincter dysfunction ORPHA:53721
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Pandas
Enuresis ORPHA:66624
East Syndrome
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... ORPHA:199343
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency OMIM:606071
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Malakoplakia
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria ORPHA:556
Spastic Paraplegia Type 7
Urinary urgency ORPHA:99013
Porphyria, Acute Intermittent
Urinary incontinence, Dysuria, Elevated urinary delta-aminolevulinic acid, Urinary retention OMIM:176000
Distal Monosomy 10Q
Horseshoe kidney, Functional abnormality of the bladder, Acute kidney injury, Vesicoureteral refl... ORPHA:96148
Autosomal Dominant Spastic Paraplegia Type 10
Spastic/hyperactive bladder, Urinary urgency ORPHA:100991
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria OMIM:612780
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Enuresis, Recurrent urinary tract infections OMIM:619293
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
Adrenoleukodystrophy
Urinary incontinence, Urinary bladder sphincter dysfunction OMIM:300100
Autosomal Recessive Spastic Paraplegia Type 77
Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic bladder ORPHA:466722
Spastic Paraplegia 9A, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:601162
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Spinocerebellar Ataxia Type 42
Urinary incontinence, Urinary urgency ORPHA:458803
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
Spinocerebellar Ataxia Type 13
Urinary incontinence, Urinary urgency ORPHA:98768
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:43
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Urinary urgency, Pollakisuria ORPHA:447753
Gitelman Syndrome
Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal magnesium wasting OMIM:263800
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction OMIM:183090
Sacral Defect With Anterior Meningocele
Urinary retention, Neurogenic bladder OMIM:600145
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Functional abnormality of the bladder, Nephrolithiasis, Hydronephrosis ORPHA:2953
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Adrenomyeloneuropathy
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary retention ORPHA:139399
Machado-Joseph Disease
Urinary bladder sphincter dysfunction OMIM:109150
Urachal Cyst
Urachus fistula, Hematuria, Pyuria, Dysuria ORPHA:488
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
Perineural Cyst
Recurrent urinary tract infections, Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:65250
Spinocerebellar Ataxia 1
Urinary bladder sphincter dysfunction OMIM:164400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Urinary urgency OMIM:146500
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Dopamine Beta-Hydroxylase Deficiency
Nocturia, Elevated urinary dopamine ORPHA:230
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction ORPHA:93256
Friedreich Ataxia
Urinary bladder sphincter dysfunction ORPHA:95
Citrullinemia Type Ii
Enuresis ORPHA:247585
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... ORPHA:358
Arachnoid Cyst
Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:2356
7Q11.23 Microduplication Syndrome
Enuresis, Hydronephrosis, Hypospadias, Unilateral renal agenesis ORPHA:96121
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Urinary urgency, Urinary retention ORPHA:99027
Split Cord Malformation
Hypospadias, Horseshoe kidney, Hydronephrosis, Detrusor sphincter dyssynergia, Renal duplication,... ORPHA:573278
Superficial Siderosis
Functional abnormality of the bladder ORPHA:247245
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 incontinence, Urinary bladder sphincter dysfunction, Urinary retention ORPHA:139417
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Hydronephrosis, Renal agenesis, Chordee, Pelvic kidney, Grade III vesicoureteral ref... OMIM:619522
Autosomal Dominant Progressive External Ophthalmoplegia
Nocturia ORPHA:254892
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, IgA deposition in the glomerulus, Abnormality of the urina... ORPHA:79408
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis ORPHA:369950
Williams-Beuren Syndrome
Renal hypoplasia, Urethral stenosis, Nephrocalcinosis, Pelvic kidney, Recurrent urinary tract inf... OMIM:194050
Posterior Meningocele
Enuresis ORPHA:268810
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis ORPHA:293987
Alström Syndrome
Urinary urgency, Urinary retention, Dysuria, Detrusor sphincter dyssynergia, Stage 5 chronic kidn... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Pelvic kidney, Micropenis, Urinary urgency, Unilateral renal agenesis OMIM:619503

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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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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