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
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal... OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets OMIM:193100
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... ORPHA:1652
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Hyperbi... OMIM:227810
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, Calcinosis, Hyperca... OMIM:239200
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia ORPHA:352540
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia OMIM:156400
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc... OMIM:241530
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Hypokalemia, Proteinu... ORPHA:213
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera... OMIM:219800
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Nephrocalcinosis, Blue urine ORPHA:94086
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,... OMIM:229600
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia OMIM:163200
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D... OMIM:605911
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... OMIM:248190
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Renal tubular dysfunction, Hypophosphatemia, A... OMIM:307800
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hyperphosphaturia, Abn... ORPHA:289176
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Abnormality of the kidney ORPHA:2611
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Mccune-Albright Syndrome
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Renal tubular dysfunction ORPHA:562
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Renal sodium... ORPHA:199343
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia OMIM:145980
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Wilson Disease
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... OMIM:277900
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria OMIM:602722
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria OMIM:264700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... OMIM:613845
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia ORPHA:469
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... OMIM:309000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:264350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis OMIM:617994
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra... OMIM:611489
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia, Hy... OMIM:612462
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556037
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ... OMIM:612780
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:94089
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h... ORPHA:79102
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... ORPHA:427
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria ORPHA:428
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal u... ORPHA:320
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level ORPHA:556030
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Hydroxyprolinemia, Hypercalciuria, Increased... OMIM:239000
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... ORPHA:85450
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:601678
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia OMIM:614732
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria OMIM:617671
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insuf... ORPHA:534
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... ORPHA:94093
Pearson Syndrome
Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Proteinuria, Renal cy... ORPHA:699
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria ORPHA:89936
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Raine Syndrome
Hydronephrosis, Hypophosphatemia, Hydroureter OMIM:259775
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t... ORPHA:84081
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:241200
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... ORPHA:73224
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Nocturia... OMIM:263800
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemic rickets... ORPHA:51608
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Hypercalciuria, Elevated... OMIM:241500
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Familial Glucocorticoid Deficiency
Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Renal salt wasting, Hyperkalemia ORPHA:361
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:79444
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria ORPHA:251274
Oculoskeletodental Syndrome
Renal agenesis, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia OMIM:618440
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Hyperoxaluria, Stag... ORPHA:416
Acute Adrenal Insufficiency
Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Renal salt wasting... ORPHA:95409
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, Increased c... ORPHA:90791
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:79443
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Hyperphosphatemia OMIM:101800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Hypercholesterolemia, Hyper... ORPHA:275761
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Hypocalcemia, Rena... ORPHA:358
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Addison Disease
Hyperuricemia, Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Hyper... ORPHA:85138
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype... ORPHA:90041
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid... ORPHA:369837
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Elevated urinary c... ORPHA:653
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hypernatriuria, Hyponatremia, Elevated urinary epinephrine level, Urogenital sinus an... ORPHA:90794
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hyperbilirubinemia, Renal Fanconi syndrome, Hypercalciuria, Complex or... OMIM:557000
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged kidney, Increased circulating... ORPHA:508
Beckwith-Wiedemann Syndrome
Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren... ORPHA:116
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Williams Syndrome
Renal hypoplasia, Nephrocalcinosis, Abnormal circulating lipid concentration, Recurrent urinary t... ORPHA:904
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Renal artery st... OMIM:194050
Sarcoidosis
Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephri... ORPHA:797
Cystic Fibrosis
Hypercalciuria OMIM:219700
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Hypercalcemia, Nephrolithiasis ORPHA:652
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis ORPHA:666
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 12 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Differential contribution of THIK-1 K+ channels and P2X7 receptors to ATP-mediated neuroinflammation by human microglia. Journal of neuroinflammation (February 2024) Kcnk13em1(IMPC)H PMC10895799
TALK-1-mediated alterations of β-cell mitochondrial function and insulin secretion impair glucose homeostasis on a diabetogenic diet. Cell reports (January 2024) Kcnk16tm1c(EUCOMM)Hmgu Kcnk16tm1a(EUCOMM)Hmgu 38206814
Characterisation of C101248: A novel selective THIK-1 channel inhibitor for the modulation of microglial NLRP3-inflammasome. Neuropharmacology (November 2022) Kcnk13em1(IMPC)H PMC9841576
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
TRESK background K+ channel deletion selectively uncovers enhanced mechanical and cold sensitivity. The Journal of physiology (February 2020) Kcnk18tm1(KOMP)Vlcg 31919847
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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