Gene Summary

Name:
ATPase, H+/K+ transporting, nongastric, alpha polypeptide
Synonyms:
Atp1al1,  HKalpha2,  cHKA,  ATPase H+K+-transporting, alpha 2

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.

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

39 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Atp12a 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 Atp12a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Vomiting, Failure to thrive, Nephrocalcinosis, Distal renal tubular ... OMIM:602722
Liddle Syndrome
Constipation, Nephropathy, Hypokalemia, Renal insufficiency ORPHA:526
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Vomiting, Nausea, Increased ... OMIM:241150
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Chronic diarrhea, Failure to thrive, Splenomegaly OMIM:615285
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa... OMIM:604387
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Chronic diarrhea, ... ORPHA:85445
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia OMIM:267200
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular ... OMIM:604278
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hypokalemia, Failure to thrive, Nephrocalcinosis, Hepatosplenomegaly, Distal renal t... OMIM:611590
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Vomiting, Hyponatremia, Increased circulating renin level, Fail... OMIM:203400
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega... OMIM:619902
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid... ORPHA:3337
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Diarrhea, Vomiting, Hyponatremia, Failure to thrive OMIM:264350
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia OMIM:218030
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multi... OMIM:613095
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Cystinosis
Hypokalemia, Nephropathy, Vomiting, Failure to thrive, Proteinuria, Hypophosphatemia, Renal insuf... ORPHA:213
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Left ventricular hypertrophy, Failure to thrive, ... ORPHA:320
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyposthenuria, Incre... OMIM:601678
Fanconi-Bickel Syndrome
Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hy... OMIM:227810
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Vomiting, Constipation, Hyperphosphaturia, Glycosu... ORPHA:411629
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive OMIM:610600
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Ren... ORPHA:199343
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hypokalemia, Hyperprostaglandi... ORPHA:89938
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Diarrhea, Hypocalcemia, Cachexia, Vomiting, Hematochezia, Hypomagnesemia, Xerostomia OMIM:175500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia OMIM:188580
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Vomiting, Hyponatremia, Increased circulating renin level, Failure to thrive, Renal... ORPHA:556037
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Large for gestational age, Enlarged kidney OMIM:618272
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration, Hypokal... OMIM:611489
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Diarrhea, Increased circulating renin level, Hyponatremia, Vomiting, Failure to thrive OMIM:177735
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Diarr... ORPHA:47159
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Decreased circulating renin level, Hypokalemia OMIM:613677
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Failure to thrive, S... OMIM:214700
Colchicine Poisoning
Hypokalemia, Diarrhea, Oliguria, Hypocalcemia, Vomiting, Nausea, Hyponatremia, Hypomagnesemia, Hy... ORPHA:31824
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia OMIM:613239
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Enlarged kidney, Hypopho... OMIM:276700
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Obesity, Hypercalcemia, Macroscopic hematuria, Pr... ORPHA:251004
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Xero... OMIM:617671
Ectopic Aldosterone-Producing Tumor
Nausea, Renal cortical adenoma, Decreased circulating renin level, Hypokalemia ORPHA:231632
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Vomiting, Hyponatremia, Increased circulating renin level, Failure to thrive, Renal... ORPHA:556030
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Diarrhea, Re... OMIM:241200
Gitelman Syndrome
Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Vomiting, Increased circ... OMIM:263800
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dyspla... OMIM:263200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Renal insufficiency, Diarrhea,... OMIM:608836
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Nausea, Hypokalemia, Left ventricular hypertrophy ORPHA:251274
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Gastroesophageal reflux, Hypokalemia, Hypocalcemia, Renal artery stenosis, Hyponatrem... OMIM:617913
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia, Episodic vomiting, Failure to thrive, Secre... OMIM:619377
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Bowel incontinence... ORPHA:682
Cystinosis, Nephropathic
Generalized aminoaciduria, Renal Fanconi syndrome, Hypophosphatemia, Dysphagia, Splenomegaly, Sta... OMIM:219800
Familial Hypoaldosteronism
Hyperkalemia, Renal salt wasting, Diarrhea, Increased circulating renin level, Hyponatremia, Fail... ORPHA:427
Primary Unilateral Adrenal Hyperplasia
Nausea, Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231580
Glycogen Storage Disease Ia
Intermittent diarrhea, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyper... OMIM:232200
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
Cholera
Acute kidney injury, Hypokalemia, Diarrhea, Hypocalcemia, Vomiting, Hyponatremia, Abnormality of ... ORPHA:173
Juvenile Polyposis Syndrome
Hypokalemia, Diarrhea, Failure to thrive, Hematochezia, Hypoalbuminemia OMIM:174900
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Familial Hyperaldosteronism Type Ii
Nausea, Hypokalemia ORPHA:404
Familial Hyperaldosteronism Type I
Nausea, Hypokalemia ORPHA:403
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Failure to thrive OMIM:614736
Mercury Poisoning
Nausea, Hypokalemia, Episodic vomiting, Acute kidney injury ORPHA:330021
Hypoadrenocorticism, Familial
Vomiting, Hyponatremia, Hyperkalemia OMIM:240200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Nausea, Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231625
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Acute colitis, Diarrhea, Anuria, Bloody diarrhea, Unconjugated ... ORPHA:90038
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Adrenocortical Carcinoma
Hypokalemia, Increased body weight, Abnormality of urine homeostasis, Weight loss, Increased urin... ORPHA:1501
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubu... OMIM:617303
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nausea, Nephrolithiasis, Hypokalemia ORPHA:369929
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Urinary retention, Constipation, Episodic hypokalemia, ... ORPHA:79102
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Nephrolithiasis, Hypokalemia, Left ventricular hypertrophy OMIM:615474
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Vomiting, Hyponatremia, Increased circulating renin level, Weight loss, Failure to ... ORPHA:171876
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity, Nephrolithiasis, Hypokalemia OMIM:219090
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury ORPHA:57
Familial Glucocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Diarrhea, Recurrent urinary tract infections, Vomiting, Hyponat... ORPHA:361
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Failure t... OMIM:617595
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Hypercholesterolemia, Hyperuricemia, Diarrhe... ORPHA:79259
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration OMIM:620366
Gitelman Syndrome
Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Diarrhea, Renal potas... ORPHA:358
Pearson Syndrome
Steatorrhea, Hepatomegaly, Hypokalemia, Hypocalcemia, Chronic diarrhea, Hyperalaninemia, Renal cy... ORPHA:699
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Lymphoid Interstitial Pneumonia
Failure to thrive, Enlarged kidney, Hepatomegaly, Weight loss ORPHA:79128
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Hypokalemia, Long penis, Decr... ORPHA:90795
Leprechaunism
Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight, In... ORPHA:508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Hypoalbuminemia, Heavy prot... ORPHA:505248
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... OMIM:208540
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Hyperuricemia, Diarrhea, Increased circulating renin level, Hyp... ORPHA:95409
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypokalemia, Gastroesophageal reflux... ORPHA:534
Mirage Syndrome
Hyperkalemia, Hypospadias, Gastroesophageal reflux, Chronic diarrhea, Recurrent urinary tract inf... OMIM:617053
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased urinary 11-deoxycorticosterone level, Hypokalemia, Decreased circulating r... ORPHA:90793
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Gastroesophageal reflux, Vomiting, Hyponatremia, Failure to thrive OMIM:618426
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Gastrointestinal hemorrhage, Enlarged kidney, Increased serum bile acid conc... ORPHA:731
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis ORPHA:168569
Beckwith-Wiedemann Syndrome
Large for gestational age, Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Con... ORPHA:116
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Gastroesophageal reflux OMIM:618188
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Acute kidney injury, Hyperkalemia, Hematuria, Melena, Decreased glomerular filtratio... ORPHA:340
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Failur... OMIM:252500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Vomiting, Hyponatremia, I... ORPHA:90791
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Gastroesophageal reflux, Diarrhea, Vomiting, Ureteral hypoplasia, ... ORPHA:79328
Kaposiform Lymphangiomatosis
Splenomegaly, Enlarged kidney, Hepatosplenomegaly, Multiple renal cysts ORPHA:464329
Vipoma
Hepatomegaly, Hypokalemia, Hypercalcemia, Secretory diarrhea, Weight loss ORPHA:97282
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Rabson-Mendenhall Syndrome
Hypokalemia, Long penis, Increased C-peptide level, Nephrocalcinosis, Enlarged ovaries ORPHA:769
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Gastroesophageal reflux, Episodic vomiting, Chronic diarrhea, Recurrent urinary ... OMIM:615873
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Renal salt wasting, Steatorrhea, Hyperkalemia, Diarrhea, Cachexia, Vomiting... ORPHA:275761
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protein concentr... OMIM:619573
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Scorpion Envenomation
Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia, Diarrhea, Vomiti... ORPHA:466677
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Long penis OMIM:202010
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Gastritis, Hematuria, Renal tubular dysfunction,... ORPHA:31826
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Microphallus, Hyponatrem... OMIM:201810
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Mult... ORPHA:500095
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Acute colitis, Diarrhea, Hypocalcemia, Bloody diarrhea, Anuria... ORPHA:544482
Addison Disease
Renal salt wasting, Hyperkalemia, Hyperuricemia, Diarrhea, Increased circulating renin level, Hyp... ORPHA:85138
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Marburg Hemorrhagic Fever
Hypokalemia, Diarrhea, Bloody diarrhea, Hyperamylasemia, Elevated circulating creatine kinase con... ORPHA:99826
Ogden Syndrome
Enlarged kidney, Diarrhea, Polycystic kidney dysplasia, Hyperbilirubinemia, Vomiting, Global glom... OMIM:300855
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Urogenital sinus anomaly, Abnormal circulating cholesterol conc... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Urogenital sinus anomaly, Abnormal circulating cholesterol conc... ORPHA:289548
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:786
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Vomiting, Hyponatremia, Hyperkalemia, Failure to thrive ORPHA:90790
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:199244
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Renal agenesis, Failure to thrive, Cardiomegaly, Horseshoe kidney OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Tsh-Secreting Pituitary Adenoma
Vomiting, Weight loss, Hypokalemia ORPHA:91347
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... ORPHA:466650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hyperkalemia, Long penis, Elevated urinary epinephrine level, Urogenital sinu... ORPHA:90794
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Proteus Syndrome
Enlarged kidney, Long penis, Cachexia, Enlarged polycystic ovaries, Renal cyst, Splenomegaly ORPHA:744
Vascular Ehlers-Danlos Syndrome
Hypospadias, Hypokalemia, Renovascular hypertension, Bladder diverticulum, Cystocele ORPHA:286
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hypospadias, Vesicovaginal fistula, Decreased circulating renin level, Hyponatremia... OMIM:201750

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 Atp12a

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 Atp12a.

No publications found that use IMPC mice or data for Atp12a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Atp12atm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Atp12atm208557(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Atp12atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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