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Gene: Atp12a MGI:1926943

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Section

39 Images

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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
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Hyperc... OMIM:602722
Liddle Syndrome
Nephropathy, Hypokalemia, Renal insufficiency, Constipation ORPHA:526
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Proximal tubulopathy, Vomiting, Abnormal magnesium concentratio... OMIM:241150
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... OMIM:179800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Failure to thrive, Hepatomegaly, Chronic diarrhea, Splenomegaly OMIM:615285
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... OMIM:601198
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia OMIM:154020
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium... OMIM:618314
Aa Amyloidosis
Vomiting, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Ne... ORPHA:85445
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Hypokalemia, Renal tubular dysfun... OMIM:134600
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... OMIM:300971
Liddle Syndrome 3
Hypokalemia OMIM:618126
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption of b... OMIM:604278
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Failure to thrive, N... OMIM:611590
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive,... OMIM:203400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Failure to thrive, Increased u... OMIM:613090
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... OMIM:619902
Fanconi-Bickel Syndrome
Glycosuria, Hypophosphatemia, Hyperphosphaturia, Hypokalemia, Generalized aminoaciduria, Failure ... OMIM:227810
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Vomiting, Diarrhea, Hyperkalemia, Renal salt wasting, Failure to thrive, Hyponatremia OMIM:264350
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... OMIM:616963
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Left ventricular hypertroph... ORPHA:320
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi... ORPHA:3337
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... ORPHA:411634
Apparent Mineralocorticoid Excess
Small for gestational age, Failure to thrive, Hypokalemia, Decreased circulating renin level OMIM:218030
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypokalemia, Polycystic kidne... OMIM:613095
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Cystinosis
Aminoaciduria, Vomiting, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Proteinur... ORPHA:213
Bartter Syndrome, Type 1, Antenatal
Diarrhea, Renal salt wasting, Hyperchloriduria, Polyuria, Hypomagnesemia, Hypercalciuria, Hyperpr... OMIM:601678
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Bartter Syndrome, Type 3
Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchloriduria, Increased u... OMIM:607364
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal b... ORPHA:411629
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Renal insufficiency OMIM:177200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... OMIM:602522
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyponatremia OMIM:610600
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Vomiting, Hypocitraturia, Diarrhea, Hypermagnesiuria, Hyperp... ORPHA:18
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
East Syndrome
Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Abnorma... ORPHA:199343
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Diarrhea, Hypokalemia, Cachexia, Hematochezia, Xerostomia, Hypocalcemia, Hypomagnesemia OMIM:175500
Bartter Syndrome Type 4
Impaired renal concentrating ability, Vomiting, Small for gestational age, Acute kidney injury, S... ORPHA:89938
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Large for gestational age OMIM:618272
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Vomiting, Diarrhea, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia OMIM:177735
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Vomiting, Diarrhea, Glycosuria, Hyperphosphaturia, Bicarbonate-wa... ORPHA:47159
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Secretory diarr... OMIM:214700
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Polyuria, Hypercalciuria OMIM:613677
Late-Onset Familial Hypoaldosteronism
Vomiting, Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thriv... ORPHA:556037
Colchicine Poisoning
Vomiting, Renal insufficiency, Diarrhea, Hypophosphatemia, Hypokalemia, Abnormal blood ion concen... ORPHA:31824
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Small for gestational age, Glycosuria, Hyperkale... ORPHA:97362
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... ORPHA:251004
Helix Syndrome
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolit... OMIM:617671
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Tyrosinemia, Type I
Hypermethioninemia, Enlarged kidney, Paralytic ileus, Episodic vomiting, Elevated circulating alp... OMIM:276700
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hyposthenuria, Vomiting, Diarrhea, Small for gestational age, H... OMIM:241200
Gitelman Syndrome
Vomiting, Hypokalemia, Nocturia, Increased circulating renin level, Failure to thrive, Polyuria, ... OMIM:263800
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Renal cortical adenoma, Nausea ORPHA:231632
Early-Onset Familial Hypoaldosteronism
Vomiting, Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thriv... ORPHA:556030
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Vomiting, Cardiomegaly, Decreased plasma free carnitine, Diarrhea, Ren... OMIM:608836
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Bowe... ORPHA:682
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Gastroesophageal reflux, Dysphagia, Calcinosis, Hypokalemia, Renal artery stenosis... OMIM:617913
Familial Hypoaldosteronism
Diarrhea, Hyperkalemia, Renal salt wasting, Increased circulating renin level, Proximal renal tub... ORPHA:427
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Episodic vomiting, Failure to thrive, S... OMIM:619377
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Nausea, Hypercalciuria ORPHA:251274
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... OMIM:219800
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Nausea ORPHA:231580
Glycogen Storage Disease Ia
Hyperuricemia, Intermittent diarrhea, Enlarged kidney, Decreased glomerular filtration rate, Hype... OMIM:232200
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Polyuri... OMIM:612780
Cholera
Vomiting, Abnormality of renal excretion, Diarrhea, Acute kidney injury, Decreased urine output, ... ORPHA:173
Juvenile Polyposis Syndrome
Diarrhea, Hypokalemia, Failure to thrive, Hematochezia, Hypoalbuminemia OMIM:174900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hypoadrenocorticism, Familial
Vomiting, Hyperkalemia, Hyponatremia OMIM:240200
Familial Hyperaldosteronism Type I
Hypokalemia, Nausea ORPHA:403
Familial Hyperaldosteronism Type Ii
Hypokalemia, Nausea ORPHA:404
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:614736
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Nausea ORPHA:231625
Mercury Poisoning
Acute kidney injury, Hypokalemia, Nausea, Episodic vomiting ORPHA:330021
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Anuria, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Hemoglobinuria, Acu... ORPHA:90038
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Renal insufficiency, Acute kidney injury, Exercise-induced myoglobinuria, High... ORPHA:99845
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Inflammation of the large intestine, Decreased glomerular filtrat... OMIM:232220
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Hepatomegaly, Proteinuria,... OMIM:617303
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis, Nausea ORPHA:369929
Adrenocortical Carcinoma
Weight loss, Hypokalemia, Abnormality of urine homeostasis, Increased urinary cortisol level, Inc... ORPHA:1501
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Left ventricular hypertrophy, Hypokalemia, Nephrolithiasis OMIM:615474
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Abdominal obesity, Nephrolithiasis OMIM:219090
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Generalized Pseudohypoaldosteronism Type 1
Vomiting, Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to ... ORPHA:171876
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Weight loss, Urinary retention, Transient hypophosphatemia, Hyperkalemia, M... ORPHA:79102
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis OMIM:608022
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Hyperkalemia, Hyperechogenic kidney... OMIM:617595
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Enterocolitis, Diarrhea, Stage 5 chronic kidney disease, Enlarged kidney, Ulcerati... ORPHA:79259
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Familial Glucocorticoid Deficiency
Vomiting, Diarrhea, Weight loss, Recurrent urinary tract infections, Hyperkalemia, Renal salt was... ORPHA:361
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Renal interstitial immunoglobulin deposits, Abnormal ureter morpholo... ORPHA:449395
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Diarrhea, Hypokalemia... ORPHA:358
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:615415
Pearson Syndrome
Hyperalaninemia, Chronic diarrhea, Small for gestational age, Glycosuria, Hypophosphatemia, Hypok... ORPHA:699
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Urethral atresia, Hydronephrosis OMIM:314390
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... OMIM:194080
Lymphoid Interstitial Pneumonia
Failure to thrive, Enlarged kidney, Weight loss, Hepatomegaly ORPHA:79128
Leprechaunism
Decreased body weight, Enlarged kidney, Hypokalemia, Increased circulating renin level, Long peni... ORPHA:508
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Ur... OMIM:208540
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, R... ORPHA:90795
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Hypoalbuminemia, Proteinuria, Urinary gl... ORPHA:505248
Acute Adrenal Insufficiency
Hyperuricemia, Diarrhea, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating ren... ORPHA:95409
Hepatocellular Carcinoma
Diarrhea, Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hepatomegaly, Hyponatremia... ORPHA:88673
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Glomerulopathy, Aminoaciduria, Gastroesophageal reflux, Abnormal renal tubu... ORPHA:534
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, F... ORPHA:90793
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Gastroesophageal reflux, Vomiting, Hypokalemia, Failure to thrive, Hyponatremia OMIM:618426
Mirage Syndrome
Gastroesophageal reflux, Decreased body weight, Achalasia, Chronic diarrhea, Microphallus, Recurr... OMIM:617053
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... ORPHA:731
Congenital Isolated Acth Deficiency
Hyperkalemia, Hyponatremia ORPHA:199296
Vipoma
Weight loss, Hypokalemia, Secretory diarrhea, Hypercalcemia, Hepatomegaly, Hematochezia ORPHA:97282
H Syndrome
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Hypertriglyceridemia, Micropenis ORPHA:168569
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Splenomegaly, Congenital megaureter, Enlarged kidney, Larg... ORPHA:116
Neuroleptic Malignant Syndrome
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Dysphagia, Vomiting, Acute kidney injury,... ORPHA:94093
Alg9-Cdg
Gastroesophageal reflux, Hypoplasia of the bladder, Vomiting, Diarrhea, Enlarged kidney, Ureteral... ORPHA:79328
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Decreased body weight, Diarrhea, Acute t... ORPHA:340
Hyperparathyroidism, Transient Neonatal
Gastroesophageal reflux, Enlarged kidney, Unilateral renal agenesis OMIM:618188
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia OMIM:613091
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Enlarged kidney, Failure to thrive, Mucopolysacchariduria, H... OMIM:252500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive,... ORPHA:90791
Kaposiform Lymphangiomatosis
Enlarged kidney, Multiple renal cysts, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia... OMIM:130650
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia, Long penis, Enlarged ovaries, Nephrocalcinosis ORPHA:769
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus OMIM:612651
Helsmoortel-Van Der Aa Syndrome
Gastroesophageal reflux, Enuresis nocturna, Chronic diarrhea, Recurrent urinary tract infections,... OMIM:615873
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Diarrhea, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Constipatio... ORPHA:199299
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypercholesterolemia, Vomiting, Diarrhea, Weight loss, Ca... ORPHA:275761
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Small for gestational age, Necrotizing enterocolitis, Hypokalemia, Secretory ... OMIM:619573
Scorpion Envenomation
Vomiting, Diarrhea, Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Increased circulatin... ORPHA:466677
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Long penis OMIM:202010
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Ethylene Glycol Poisoning
Vomiting, Decreased urine output, Renal tubular epithelial necrosis, Hypocalcemia, Hyperkalemia, ... ORPHA:31826
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My... ORPHA:423
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Scrotal hypospadias, Microphallus, Hyperkalemia, Hypospadias, Penoscrotal hypospadias, Perineal h... OMIM:201810
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney, L... ORPHA:500095
Addison Disease
Hyperuricemia, Diarrhea, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating ren... ORPHA:85138
Marburg Hemorrhagic Fever
Bloody diarrhea, Vomiting, Diarrhea, Hypokalemia, Elevated circulating creatine kinase concentrat... ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Bloody diarrhea, Anuria, Vomiting, Diarrhea, Acute kidney injury, De... ORPHA:544482
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Vomiting, Hyperkalemia, Hyponatremia ORPHA:90790
Ogden Syndrome
Vomiting, Diarrhea, Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Global glom... OMIM:300855
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:786
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Vomiting, Midshaft hypospadias,... ORPHA:168558
Nelson Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:199244
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Vomiting, Midshaft hypospadias,... ORPHA:289548
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Renal agenesis, Failure to thrive, Horseshoe kidney, Hepatomegaly, Cardiomegaly OMIM:306955
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Vomiting, Weight loss ORPHA:91347
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly OMIM:608885
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Vomiting, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kin... ORPHA:466650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Vomiting, Weight loss, Hyperkalemia, Renal salt wasting, Long penis, El... ORPHA:90794
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Hypospadias, Hepatomega... OMIM:312870
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Hyperkalemia, Hyponatremia ORPHA:293978
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Patent urachus, Micropenis OMIM:618280
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Hyperlipidemia, Hyponatremia, Enuresis, Obesity ORPHA:293987
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Bladder diverticulum, Hypospadias, Renovascular hypertension, Cystocele ORPHA:286
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Small for gestational age, Decreased circulating renin level, Hyperkalemia... 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.

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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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