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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.

Select physiological systems to view:
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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

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 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, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Liddle Syndrome
Nephropathy, Hypokalemia, Renal insufficiency, Constipation ORPHA:526
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis, Failure t... OMIM:602722
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... 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, Hypokalemia, Proximal tubulopathy, Vomiting, Increased circulat... OMIM:241150
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive, Enlarged kidney OMIM:615285
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic diarrhea, Chronic kidney disease, N... ORPHA:85445
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... 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
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hepatosplenomegaly, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Fa... OMIM:611590
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Vomiting, Increased circulating renin level, Fail... OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Vomiting, Failure to thrive OMIM:264350
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Apparent Mineralocorticoid Excess
Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal... ORPHA:320
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Apparent Mineralocorticoid Excess
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level OMIM:218030
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... ORPHA:411634
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Vomiting... ORPHA:213
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Vomiting, Increased circu... OMIM:601678
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalize... OMIM:227810
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hype... ORPHA:18
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... ORPHA:199343
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:610600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia OMIM:175500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Large for gestational age OMIM:618272
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Vomiting, Increased circulating renin level, Failure to thrive OMIM:177735
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level OMIM:613677
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli... ORPHA:47159
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased circulating renin level, ... OMIM:214700
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Vomiting, Increased circulating renin level, Renal sodium wasting, Fa... ORPHA:556037
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Diarrhea, Abnormal blood ion concentration, Oliguria, Hypophos... ORPHA:31824
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Obes... ORPHA:251004
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Vomiting, Increased circulating renin level OMIM:620126
Helix Syndrome
Renal insufficiency, Polyuria, Xerostomia, Nephrolithiasis, Hypermagnesemia, Hypokalemia, Hypocal... OMIM:617671
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hepatomegaly, Elevated circul... OMIM:276700
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... OMIM:241200
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Hypomagnesemia, Enuresis, Hypokalemia, Constipation, Vomiting,... OMIM:263800
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Nausea, Renal cortical adenoma ORPHA:231632
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated circulating cr... OMIM:608836
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis... OMIM:263200
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Vomiting, Increased circulating renin level, Renal sodium wasting, Fa... ORPHA:556030
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Hyperkalemi... ORPHA:682
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka... OMIM:617913
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... ORPHA:427
Osteootohepatoenteric Syndrome
Proteinuria, Secretory diarrhea, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increa... OMIM:619377
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypercalciuria, Hypokalemia, Nausea ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Nausea, Increased urinary potassium ORPHA:231580
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci... OMIM:612780
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Juvenile Polyposis Syndrome
Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive OMIM:174900
Cholera
Hyponatremia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentration, Hypokal... ORPHA:173
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Familial Hyperaldosteronism Type I
Hypokalemia, Nausea ORPHA:403
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Vomiting OMIM:240200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting OMIM:614736
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Nausea, Increased urinary potassium ORPHA:231625
Mercury Poisoning
Hypokalemia, Acute kidney injury, Episodic vomiting, Nausea ORPHA:330021
Familial Hyperaldosteronism Type Ii
Hypokalemia, Nausea ORPHA:404
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diarrhea, Peritonitis, Elevated circulating creatinine concentration, Blood... ORPHA:90038
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... OMIM:232220
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Adrenocortical Carcinoma
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... ORPHA:1501
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Nausea ORPHA:369929
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis, Abdominal obesity, Obesity OMIM:219090
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Vomiting, Increased circul... ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia ORPHA:57
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Diarrhea, Hyperlipidemia, Enterocolitis, Ulcerat... ORPHA:79259
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Diarrhea, Hyperkalemia, Wei... ORPHA:361
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Diarrhea, Hypermagnesemia, Tubulo... ORPHA:358
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Pearson Syndrome
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Spleno... ORPHA:699
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... ORPHA:508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr... ORPHA:90795
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Hypercalciuria, Proteinuria, Hypoammonemia, Pr... ORPHA:534
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting... ORPHA:95409
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Hypokalemia, Micropenis, Failure to thrive, Increased urinary 11-deoxycorticosterone... ORPHA:90793
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Gastroesophageal reflux, Vomiting, Failure to thrive OMIM:618426
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Chronic diarrhea, Hyperkalemia, Ga... OMIM:617053
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... ORPHA:731
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney ORPHA:168569
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Large f... ORPHA:116
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Gastroesophageal reflux, Unilateral renal agenesis OMIM:618188
Vipoma
Hepatomegaly, Hypercalcemia, Secretory diarrhea, Weight loss, Hematochezia, Hypokalemia ORPHA:97282
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Diarrhea, Gastroesophageal reflux, ... ORPHA:79328
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Vomiting, Increased circulating reni... ORPHA:90791
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Hematemesis, Diarrhea, Chronic kidney disease, Elevated ... ORPHA:340
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... OMIM:252500
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly ORPHA:464329
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Rabson-Mendenhall Syndrome
Enlarged ovaries, Long penis, Nephrocalcinosis, Hypokalemia, Increased C-peptide level ORPHA:769
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Chronic diarrhea, Obesity, Enuresis nocturna, Truncal obesity... OMIM:615873
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Diarrhea, Hyperkalemia, Weight loss, Constipation, Hyperuricemia, Fa... ORPHA:199299
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Diarrhea, Hyperkalemia, Abnorma... ORPHA:275761
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Hypertriglyceridemia, Small for gest... OMIM:619573
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Ketonuria, Diarrhea, Increased circulating creatin... ORPHA:466677
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Decreased circulating renin level OMIM:202010
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... ORPHA:423
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... ORPHA:31826
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... OMIM:201810
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... ORPHA:500095
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Addison Disease
Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkale... ORPHA:85138
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Diarrhe... ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diarrhea, Secretory diarrhea, Oliguria, Hyperkalemia, Bloody diarrhea, Decr... ORPHA:544482
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Diarrhea, Vomiting, Polycystic kidney dysplasia, Dysphag... OMIM:300855
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:168558
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:786
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:289548
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:199244
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Failure to thrive, Vomiting ORPHA:90790
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Failure to thrive, Enlarged kidney 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
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Vo... ORPHA:466650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... ORPHA:90794
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... OMIM:312870
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Hyperkalemia ORPHA:293978
Cardiac-Urogenital Syndrome
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus OMIM:618280
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis ORPHA:293987
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia ORPHA:286
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Small for gestational age, Vesicovaginal fistula, Hyperkalemia, Horses... 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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