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Gene: Kcnmb1 MGI:1334203

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
potassium large conductance calcium-activated channel, subfamily M, beta member 1
Synonyms:
BKbeta1,  BK channel beta subunit

Order Alleles

IMPC Data Collections

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

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.

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 Kcnmb1 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 Kcnmb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... OMIM:601894
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu... OMIM:616818
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:613944
Nail-Patella-Like Renal Disease
Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Rena... OMIM:161900
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki... OMIM:617610
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hypertension, Stage 5 chronic ... OMIM:618061
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... OMIM:613237
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:161950
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Nephropathy, Renal tubular atrophy, Nephritis, Renal insuff... OMIM:162000
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Hypertension, Nephrotic syndrome, Micro... ORPHA:84090
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Left atrial enlargement, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibri... OMIM:620734
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Hypertension, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amylo... OMIM:105200
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Atrioventricular block, Neph... ORPHA:85447
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Hypertension, Uric ... ORPHA:976
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Proteinuria, Nephroblastoma, Nephropathy ORPHA:220
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Liddle Syndrome
Hypertension, Nephropathy, Cerebral ischemia, Arrhythmia, Renal insufficiency ORPHA:526
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Hyp... ORPHA:2260
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Hypertension, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Renal interstitial amyloid d... ORPHA:85450
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di... ORPHA:650
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cryoglobulinemia, Familial Mixed
Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease OMIM:123550
Alport Syndrome 2, Autosomal Recessive
Hematuria, Hypertension, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, P... OMIM:203780
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hypertension, Mitral valve prolapse, Mitral reg... OMIM:173900
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Decreased glomerular filtration rate, Arteritis, Gl... ORPHA:93126
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Hypertension, Ves... ORPHA:2704
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,... OMIM:610205
Nephronophthisis 2
Situs inversus totalis, Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubul... OMIM:602088
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... ORPHA:615
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Hyp... ORPHA:93108
Primary Hyperoxaluria Type 1
Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, Hyperoxaluri... ORPHA:93598
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria, Sta... OMIM:612925
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Hypertension, Epistaxis, Oliguria, Glomerulone... ORPHA:340
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Glycogen Storage Disease Ic
Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Spider hemangioma, Hypertension, P... OMIM:232240
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... OMIM:178600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612924
Congenital Tricuspid Stenosis
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... ORPHA:95459
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis OMIM:601198
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement... OMIM:104200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612926
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hypertension, Nephrolithiasi... OMIM:232200
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... ORPHA:1457
Pseudo-Torch Syndrome 3
Acute kidney injury, Hypertension, Proteinuria, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar... OMIM:300257
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hypertension, Nephrolithiasi... OMIM:232220
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra... ORPHA:1677
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypernatriu... OMIM:613090
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Tu... ORPHA:488627
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer... OMIM:602522
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Cardiomegaly, Dilated cardiomyopat... OMIM:208000
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Sickle Cell Disease
Hepatomegaly, Hematuria, Hypertension, Splenomegaly, Cardiomegaly, Renal insufficiency OMIM:603903
Alkaptonuria
Decreased glomerular filtration rate, Nephrolithiasis, Mitral valve calcification, Dark urine, Ao... OMIM:203500
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Hypertension, Ve... ORPHA:1851
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Argininuria, Hepatomegaly, Decreased glomerular filtration rate... ORPHA:470
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas... ORPHA:91500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125

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 Kcnmb1

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 Kcnmb1.

No publications found that use IMPC mice or data for Kcnmb1.

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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
Kcnmb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcnmb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kcnmb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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