Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
potassium channel, subfamily K, member 1
Synonyms:
TWIK-1

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 Kcnk1 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 Kcnk1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia OMIM:612286
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... ORPHA:99879
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... OMIM:613388
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... OMIM:134600
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... ORPHA:157215
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ... OMIM:227810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... OMIM:616026
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis, Hyperphosph... OMIM:239200
Fanconi-Bickel Syndrome
Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglycer... ORPHA:2088
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Low-molecula... ORPHA:411629
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis OMIM:156400
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... ORPHA:411634
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Distal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... ORPHA:18
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Proximal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulop... ORPHA:47159
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... ORPHA:405
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... ORPHA:436271
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy, Proteinuria... ORPHA:213
Fructose Intolerance, Hereditary
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... OMIM:229600
Blue Diaper Syndrome
Blue urine, Nephrocalcinosis, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, H... OMIM:241530
Cystinosis, Nephropathic
Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Hyponatremia... OMIM:219800
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... OMIM:220110
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... OMIM:307800
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia OMIM:239199
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia OMIM:300539
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Hypophosphatemic rickets, Horseshoe kidney OMIM:163200
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Stage 3 chronic kidney disease, Eleva... OMIM:619743
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... ORPHA:99845
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... ORPHA:1031
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... ORPHA:289176
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... OMIM:277900
Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria, Hypercalciuria, Renal insufficiency, Hy... ORPHA:437
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Linear Verrucous Nevus Syndrome
Abnormality of the kidney, Hypophosphatemia ORPHA:2611
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... ORPHA:31824
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:610600
Bartter Syndrome, Type 3
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Increased circulating renin le... OMIM:607364
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia OMIM:145980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Mccune-Albright Syndrome
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Renal tubular dysfunction ORPHA:562
East Syndrome
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... ORPHA:199343
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:203400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria OMIM:602722
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... OMIM:211900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypophosphatemia, Hypocalcemia ORPHA:93160
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonaturia, Proteinur... OMIM:309000
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:145981
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Hereditary Fructose Intolerance
Chronic kidney disease, Hypophosphatemia, Renal insufficiency, Hyperuricemia, Hypermagnesemia ORPHA:469
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficienc... ORPHA:99880
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Increased circulating renin level, Renal so... OMIM:612780
Parathyroid Carcinoma
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficienc... ORPHA:143
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis OMIM:143880
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Autoimmune Hypoparathyroidism
Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:264350
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Polyuria, Hypokalemia, Hypercalciuria OMIM:613677
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting ORPHA:556037
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:612462
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Low urinary cyclic A... ORPHA:94089
Familial Hypoaldosteronism
Proximal renal tubular acidosis, Increased circulating renin level, Hyponatremia, Decreased urina... ORPHA:427
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Urinary retention, Transie... ORPHA:79102
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hyperuricemia, Increased... OMIM:239000
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting ORPHA:556030
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormal urine sodium concentration, Renal insufficiency, Decreased circulating reni... ORPHA:320
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:103580
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis ORPHA:428
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... OMIM:601678
Bartter Syndrome Type 4
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... ORPHA:89938
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalciuria, Hypercalcemia, Micropenis OMIM:614732
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... ORPHA:423
Helix Syndrome
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagnesemia OMIM:617671
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis OMIM:241410
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Lacticaciduria, Glycosuria, Renal cy... ORPHA:699
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria ORPHA:89936
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Hypoammonemia,... ORPHA:534
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... ORPHA:94093
Raine Syndrome
Hydroureter, Hypophosphatemia, Hydronephrosis OMIM:259775
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... ORPHA:84081
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... OMIM:241200
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig... ORPHA:340
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... ORPHA:73224
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Increased circulating renin level... OMIM:263800
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231580
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Phosphoethanolaminuria, Hypercalciuria, Hypercalcemia, Elevated ur... OMIM:241500
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis ORPHA:2323
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Medullary nephrocalcinosis, Hyperphosphaturia, Cortical nephrocalcinosi... ORPHA:51608
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Hyperphosphatemia ORPHA:457059
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin... ORPHA:79444
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria ORPHA:251274
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231625
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Hypernatriuria, Hyponatremia, Hyperkalemia, Renal salt wasting ORPHA:361
Oculoskeletodental Syndrome
Hypocalcemia, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia OMIM:618440
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Acute Adrenal Insufficiency
Increased circulating renin level, Renal insufficiency, Hyponatremia, Hyperuricemia, Hypercalcemi... ORPHA:95409
Primary Hyperoxaluria
Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp... ORPHA:416
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Hyperphosphatemia OMIM:101800
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin... ORPHA:79443
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased circulating renin level, Penoscrotal hypospadias, Hyponatremia, Hyperkalem... ORPHA:90791
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Elevated circulating creatine kinase concentration, Oliguria, Hyperphosphatemia, Ac... ORPHA:466650
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating re... ORPHA:90795
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Abnormal urine potassium concentration, Increased... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Abnormal urine potassium concentration, Increased... ORPHA:289548
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria OMIM:615398
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, Focal segmental glom... ORPHA:358
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypertriglyceridemia, Hypernatriuria, Hyponatremia, Hyper... ORPHA:275761
Addison Disease
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Decreased urinary ... ORPHA:85138
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Hypocalcemia, Hyperphosphatemia ORPHA:280651
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hypernatriuria, Hyperu... ORPHA:90041
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Hypert... ORPHA:369837
Multiple Endocrine Neoplasia Type 2
Nephrolithiasis, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamines, Hyperca... ORPHA:653
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Long penis, Hypernatriuria, Hyponatremia, Elevated urinary epinephrine,... ORPHA:90794
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, 3-Methylglutaric aciduria, Hypercalciuria, Complex organic aciduria, Renal Fa... OMIM:557000
Cranioectodermal Dysplasia 1
Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Tubulointerstitial nephriti... OMIM:218330
Leprechaunism
Hypokalemia, Hypercalciuria, Long penis, Increased circulating renin level, Enlarged kidney, Neph... ORPHA:508
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Congenital megaureter, Elevated alpha-fetoprotein, Nephroblastoma, Ureteral dupl... ORPHA:116
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Microscopic nephrocalcinosis, Hypercalciuria OMIM:219721
Williams Syndrome
Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Abnormal circulating lipid concentrat... ORPHA:904
Williams-Beuren Syndrome
Bladder diverticulum, Micropenis, Recurrent urinary tract infections, Hypercalciuria, Abnormal re... OMIM:194050
Sarcoidosis
Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Hypercalcemia... ORPHA:797
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Hypercalciuria, Hypercalcemia ORPHA:652
Osteogenesis Imperfecta
Nephrolithiasis, Hypercalciuria ORPHA:666
Cystic Fibrosis
Hypercalciuria OMIM:219700
Sarcoidosis, Susceptibility To, 1
Hypercalciuria OMIM:181000

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 Kcnk1

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 Kcnk1.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The two pore potassium channel THIK-1 regulates NLRP3 inflammasome activation. Glia (March 2022) Kcnk13em1(IMPC)H PMC9314991
TRESK is a key regulator of nocturnal suprachiasmatic nucleus dynamics and light adaptive responses. Nature communications (September 2020) Kcnk18tm1(KOMP)Vlcg PMC7490422
A causal role for TRESK loss of function in migraine mechanisms. Brain : a journal of neurology (December 2019) Kcnk18tm1(KOMP)Vlcg PMC6906598
TRESK K+ Channel Activity Regulates Trigeminal Nociception and Headache. eNeuro (July 2019) Kcnk18tm1(KOMP)Vlcg PMC6664143
The Role of TRESK in Discrete Sensory Neuron Populations and Somatosensory Processing. Frontiers in Molecular Neuroscience (July 2019) Kcnk18tm1(KOMP)Vlcg PMC6650782
Pyrethroids inhibit K2P channels and activate sensory neurons: basis of insecticide-induced paraesthesias. Pain (January 2018) Kcnk18tm1.1(KOMP)Vlcg PMC5737456
Microglial Ramification, Surveillance, and Interleukin-1β Release Are Regulated by the Two-Pore Domain K+ Channel THIK-1. Neuron (December 2017) Kcnk13em1(IMPC)H PMC5783715
Analysing the outcome of CRISPR-aided genome editing in embryos: Screening, genotyping and quality control. Methods (San Diego, Calif.) (March 2017) Kcnk13em1(IMPC)H Kcnk13em2(IMPC)H 28363792

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MGI Allele Allele Type Produced
Kcnk1em1(IMPC)Ics Deletion Mice
Kcnk1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcnk1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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