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.

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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 Not available
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 Not available
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 Not available
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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.

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
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Failure to thrive, ... OMIM:602722
Liddle Syndrome
Constipation, Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Nausea, Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Proxima... OMIM:241150
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Aa Amyloidosis
Nausea, Enlarged kidney, Nephrotic syndrome, Proteinuria, Acute kidney injury, Abnormality of the... ORPHA:85445
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Liddle Syndrome 3
Hypokalemia OMIM:618126
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hepatosplenomegaly, Hypokalemia, Distal renal tubular acidosis, Fa... OMIM:611590
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-was... OMIM:604278
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Failure to thr... OMIM:203400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Failure to thrive, Medullary nephrocal... OMIM:616963
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Weight loss, Hyperuricosuria, Hypercalciuria,... ORPHA:3337
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting, Failure to thrive, Diarrhea, Vomiting OMIM:264350
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Apparent Mineralocorticoid Excess
Failure to thrive, Hypokalemia, Decreased circulating renin level, Small for gestational age OMIM:218030
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Constipation, Polyuria, Hypomagnesemia, Renal juxtaglomerular cell hypertrophy/hyper... OMIM:601678
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Renal salt wasting, Hyponatremia OMIM:614736
Cystinosis
Hypokalemia, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Failure to thrive, Nephropath... ORPHA:213
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Failure to thrive, Decreased ... ORPHA:320
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobinuria, Acute kidney injury OMIM:268200
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Diarrhea OMIM:214700
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Constipation, Abnorma... ORPHA:411629
Distal Renal Tubular Acidosis
Renal cyst, Hypermagnesiuria, Nephrocalcinosis, Nephrolithiasis, Hypokalemia, Constipation, Hypoc... ORPHA:18
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level, Renal insufficiency OMIM:177200
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Failure to thrive OMIM:610600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Gastrointest... OMIM:276700
East Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Renal salt wasting, Renal sodium wastin... ORPHA:199343
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... OMIM:607364
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal sodium wa... ORPHA:556037
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia, Xerostomia, Diarrhea, Vomiting OMIM:175500
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Acute kidney injury, Hypercalciuria, ... ORPHA:89938
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Diarrhea, Vomiting OMIM:177735
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Obesity, Macroscopic ... ORPHA:251004
Colchicine Poisoning
Oliguria, Nausea, Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypo... ORPHA:31824
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level OMIM:613677
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Hypermagnesemia, Xerostomia, Hypocal... OMIM:617671
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal sodium wa... ORPHA:556030
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Constipation, Hypercalciuria, Increa... OMIM:241200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... OMIM:263200
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Constipation, Vomiting, Enuresis, Polyuria, Noctu... OMIM:263800
Ectopic Aldosterone-Producing Tumor
Nausea, Renal cortical adenoma, Decreased circulating renin level, Hypokalemia ORPHA:231632
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Enuresis, Polyuria, Renal salt wasting, Renal sod... OMIM:612780
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Decreased plasma total carnitine, Elevated circulating creatinine concentration,... OMIM:608836
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Nausea, Left ventricular hypertrophy, Hypokalemia ORPHA:251274
Glycogen Storage Disease Ia
Enlarged kidney, Intermittent diarrhea, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased g... OMIM:232200
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Increased circulating renin level, Hyperkalemia, Renal... ORPHA:427
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria... OMIM:619377
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Hyperkalemia, Elevated circulating creatine kinase concentration, Bowe... ORPHA:682
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Primary Unilateral Adrenal Hyperplasia
Nausea, Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231580
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Familial Hyperaldosteronism Type Ii
Nausea, Hypokalemia ORPHA:404
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Failure to thrive, Hypoalbuminemia, Diarrhea OMIM:174900
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hypokalemia, Failure to thrive in infancy, Protein... OMIM:219800
Familial Hyperaldosteronism Type I
Nausea, Hypokalemia ORPHA:403
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:615415
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Vomiting OMIM:240200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Left ventricular hypertrophy, Decreased circulating renin level, Nephrolithiasis OMIM:615474
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Nausea, Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231625
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute ... ORPHA:90038
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Mercury Poisoning
Nausea, Hypokalemia, Episodic vomiting, Acute kidney injury ORPHA:330021
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... ORPHA:99845
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Proteinuria, Splenomegaly, Hepatomegaly, Renal tubular atrop... OMIM:617303
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nausea, Hypokalemia, Nephrolithiasis ORPHA:369929
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Adrenocortical Carcinoma
Hypokalemia, Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body w... ORPHA:1501
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Elevated circulating c... ORPHA:449395
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Decreased urinary potassium,... ORPHA:79102
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Increased circulating renin level, Hyperkalemia, Weig... ORPHA:171876
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Nephrolithiasis, Abdominal obesity OMIM:219090
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury ORPHA:57
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Hyperlipidemia, Nephrolithiasis, Proteinuria, Hypercholesterol... ORPHA:79259
Familial Glucocorticoid Deficiency
Hyponatremia, Weight loss, Constipation, Hyperkalemia, Renal salt wasting, Failure to thrive, Hyp... ORPHA:361
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Gitelman Syndrome
Renal tubular acidosis, Hypokalemia, Renal Fanconi syndrome, Decreased urinary potassium, Protein... ORPHA:358
Pearson Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Renal cyst, Lacticaciduria, Hypokalemia, Small for... ORPHA:699
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Re... OMIM:208540
Lymphoid Interstitial Pneumonia
Failure to thrive, Enlarged kidney, Weight loss, Hepatomegaly ORPHA:79128
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Hepatomegaly OMIM:608885
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypokalemia, Decreased body weight, Increased circulating reni... ORPHA:508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Urinary glycosaminoglycan e... ORPHA:505248
Acute Adrenal Insufficiency
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Cons... ORPHA:95409
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Renal salt wasting, Long penis, Decreased circulating renin level, Increased urinary... ORPHA:90795
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Hypokalemia, Nephrocalcinosis, Hyponatremia, Nephrolithiasis, H... ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Gastrointestinal hemor... ORPHA:731
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Micropenis, Abnormality of the kidney, Hypertriglyceridemia ORPHA:168569
Mirage Syndrome
Decreased body weight, Achalasia, Hyponatremia, Hyperkalemia, Gastroesophageal reflux, Chronic di... OMIM:617053
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Micropenis, Failure to thrive, Decreased circulating renin level, Increased urinary ... ORPHA:90793
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Weight loss, Hypercalcemia, Hepatomegaly, Hyperbilirubinemia, Hypoalbu... ORPHA:88673
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Elevated alpha-fetoprotein, Enlarged kidney, Multiple renal cy... ORPHA:116
Neuroleptic Malignant Syndrome
Hypernatremia, Nausea, Hyponatremia, Acute kidney injury, Proteinuria, Hyperkalemia, Hypocalcemia... ORPHA:94093
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Vipoma
Hypokalemia, Hypercalcemia, Hepatomegaly, Secretory diarrhea, Weight loss ORPHA:97282
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Hydronephrosis, Gastroesophageal reflux, Hepatomegaly, Abno... ORPHA:79328
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Pancreatic hyperplasia,... OMIM:130650
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Enlarged kidney, Splenomegaly, Multiple renal cysts ORPHA:464329
Hemorrhagic Fever-Renal Syndrome
Oliguria, Nausea, Acute tubulointerstitial nephritis, Decreased body weight, Elevated circulating... ORPHA:340
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Failure to thr... ORPHA:90791
Rabson-Mendenhall Syndrome
Hypokalemia, Increased C-peptide level, Nephrocalcinosis, Long penis, Enlarged ovaries ORPHA:769
Scorpion Envenomation
Glycosuria, Hypokalemia, Acute kidney injury, Increased circulating creatine kinase MB isoform, K... ORPHA:466677
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Weight loss, Hypercholesterolemia, Vomiting, Hyperkalemia, Rena... ORPHA:275761
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level, Long penis OMIM:202010
Ethylene Glycol Poisoning
Nausea, Renal tubular dysfunction, Hematuria, Decreased urine output, Hyperkalemia, Hypocalcemia,... ORPHA:31826
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Bifid ureter, Renal malrotation, Multicystic kidney d... ORPHA:500095
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Hyperp... ORPHA:423
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Small for gestational age, Elevated circulating C-reactive protein concentration, He... OMIM:619573
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Addison Disease
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Cons... ORPHA:85138
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Bloody diarrhea, Nausea, Hyponatremia, Decreased urine output, Acute kidney injury, Anu... ORPHA:544482
Marburg Hemorrhagic Fever
Bloody diarrhea, Nausea, Hypokalemia, Elevated circulating creatinine concentration, Hyperamylase... ORPHA:99826
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Midshaft hypospadias, Renal salt w... ORPHA:168558
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:786
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Midshaft hypospadias, Renal salt w... ORPHA:289548
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:199244
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Failure to thrive, Hyponatremia, Vomiting ORPHA:90790
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Enlarged kidney, Horseshoe kidney, Hepatomegaly, Failure to thrive, Cardiomegaly OMIM:306955
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Weight loss, Vomiting ORPHA:91347
Exercise-Induced Malignant Hyperthermia
Oliguria, Nausea, Acute kidney injury, Hyperkalemia, Hypocalcemia, Elevated circulating creatine ... ORPHA:466650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hypochloremia, Hyperkalemia, Renal salt wasting, Long penis, Elevated urinary epine... ORPHA:90794
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Renal cyst, Hydronephrosis, Splenomegaly, Duplication of renal pelvis, Hepatomeg... OMIM:312870
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Bladder diverticulum, Renovascular hypertension, Cystocele, Hypospadias ORPHA:286

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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