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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
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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
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
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 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
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
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
Pituitary gland N/A heterozygote 50% (1 of 2)
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
Skin N/A heterozygote 100% (2 of 2)
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
Stomach N/A heterozygote 50% (1 of 2)
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)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (2 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)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Section

39 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Atp12a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atp12a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Vomiting, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hyperc... OMIM:602722
Liddle Syndrome
Hypokalemia, Nephropathy, Constipation, Renal insufficiency ORPHA:526
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Vomiting, Hypokalemia, Abnormal magnesium... OMIM:241150
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Hepatomegaly, Chronic diarrhea, Enlarged kidney OMIM:615285
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Vomiting, Proteinuri... ORPHA:85445
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ... OMIM:604278
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Hypokalem... OMIM:611590
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulatin... OMIM:203400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Renal ... OMIM:613090
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Vomiting, Diarrhea, Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:264350
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho... OMIM:616963
Liddle Syndrome 1
Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Apparent Mineralocorticoid Excess
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level OMIM:218030
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Cystinosis
Nephropathy, Aminoaciduria, Vomiting, Failure to thrive, Renal insufficiency, Renal tubular dysfu... ORPHA:213
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Renal insufficiency, Decreased circulating renin level, Hypo... ORPHA:320
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... OMIM:601678
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Failure to thrive, Beta 2-microglobulinuria, ... OMIM:227810
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Failure to thrive, Vomiting, Low... ORPHA:18
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Failure to thrive, Glycosuria, Low-molecular-weight proteinuria, Hyperph... ORPHA:411629
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Reduce... OMIM:602522
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Small for gestational age, Nephrocalcinosis, Failure... ORPHA:89938
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Renal sodium... ORPHA:199343
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Xerostomia, Vomiting, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia OMIM:175500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Late-Onset Familial Hypoaldosteronism
Vomiting, Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulat... ORPHA:556037
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra... OMIM:611489
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Nephroblastoma OMIM:618272
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Vomiting, Diarrhea, Failure to thrive, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Diarrhea, Vomiting, Failure to thrive, Glycosuria, Hypernatriuri... ORPHA:47159
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circul... OMIM:214700
Colchicine Poisoning
Oliguria, Diarrhea, Vomiting, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyp... ORPHA:31824
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ... ORPHA:97362
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
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylaceto... OMIM:276700
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Vomiting, Hyperkalemia, Increased circulating renin level OMIM:620126
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... OMIM:617671
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative... ORPHA:251004
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Nausea, Renal cortical adenoma, Decreased circulating renin level ORPHA:231632
Early-Onset Familial Hypoaldosteronism
Vomiting, Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulat... ORPHA:556030
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:241200
Gitelman Syndrome
Hypocalciuria, Enuresis, Failure to thrive, Renal magnesium wasting, Hypomagnesemia, Vomiting, Hy... OMIM:263800
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Familial Hyperaldosteronism Type Iii
Hypokalemia, Nausea, Left ventricular hypertrophy, Hypercalciuria ORPHA:251274
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis... OMIM:617913
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Vomiting, Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine c... OMIM:608836
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased serum bile acid concentration, Hypokalemia, Grad... OMIM:619377
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia, Bowe... ORPHA:682
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... OMIM:219800
Familial Hypoaldosteronism
Diarrhea, Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular ac... ORPHA:427
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ... OMIM:612780
Cholera
Acute kidney injury, Diarrhea, Vomiting, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine... ORPHA:173
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Hypokalemia OMIM:174900
Familial Hyperaldosteronism Type Ii
Hypokalemia, Nausea ORPHA:404
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Familial Hyperaldosteronism Type I
Hypokalemia, Nausea ORPHA:403
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive OMIM:614736
Mercury Poisoning
Hypokalemia, Nausea, Acute kidney injury, Episodic vomiting ORPHA:330021
Hypoadrenocorticism, Familial
Hyponatremia, Vomiting, Hyperkalemia OMIM:240200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Acute colitis, Elevated circulating creatinine c... ORPHA:90038
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Adrenocortical Carcinoma
Increased urinary cortisol level, Hypokalemia, Increased body weight, Abnormality of urine homeos... ORPHA:1501
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepato... OMIM:617303
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nausea, Nephrolithiasis ORPHA:369929
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Obesity, Decreased urinary potassium, We... ORPHA:79102
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Left ventricular hypertrophy, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Generalized Pseudohypoaldosteronism Type 1
Vomiting, Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circul... ORPHA:171876
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Nephrolithiasis, Abdominal obesity OMIM:219090
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Familial Glucocorticoid Deficiency
Diarrhea, Vomiting, Failure to thrive, Hypernatriuria, Recurrent urinary tract infections, Hypona... ORPHA:361
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Failure to thrive in infancy, Stage 3 chronic kidney di... OMIM:617595
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Diarrhea, Failure to thrive, Ulcerative co... ORPHA:79259
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Diarrhea, Failure to thrive, Hypom... ORPHA:358
Pearson Syndrome
Glycosuria, Hypomagnesemia, Exocrine pancreatic insufficiency, Renal insufficiency, Hypocalcemia,... ORPHA:699
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Failure to thrive, Enlarged kidney ORPHA:79128
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca... ORPHA:505248
Leprechaunism
Nephrocalcinosis, Long penis, Failure to thrive, Decreased body weight, Hypokalemia, Hypercalciur... ORPHA:508
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly... OMIM:208540
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Gastroesophageal reflux, Failur... ORPHA:534
Acute Adrenal Insufficiency
Diarrhea, Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary ... ORPHA:95409
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Recurrent urinary tract infections, Chronic diarrhea, Decr... OMIM:617053
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Failure to thrive, Decreased circulating renin le... ORPHA:90793
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Vomiting, Gastroesophageal reflux, Failure to thrive, Hypokalemia, Hyponatremia OMIM:618426
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent urinary tract infections, H... ORPHA:731
Neuroleptic Malignant Syndrome
Acute kidney injury, Vomiting, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, El... ORPHA:94093
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Enlarged kidney ORPHA:168569
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Diarrhea, Vomit... ORPHA:340
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Exocrine pancreatic insufficiency, Obesity, Large for gestational age... ORPHA:116
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Gastroesophageal reflux, Enlarged kidney OMIM:618188
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Failure to thrive, Splenomegaly, Cardiomegaly, Mucopolysacch... OMIM:252500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Failure to thrive, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkale... ORPHA:90791
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Alg9-Cdg
Hypoplasia of the bladder, Diarrhea, Vomiting, Gastroesophageal reflux, Abnormal renal artery mor... ORPHA:79328
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Vipoma
Secretory diarrhea, Hypokalemia, Weight loss, Hepatomegaly, Hypercalcemia ORPHA:97282
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Hypokalemia, Enlarged ovaries, Increased C-peptide level ORPHA:769
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections... OMIM:615873
Lysosomal Acid Lipase Deficiency
Diarrhea, Vomiting, Failure to thrive, Hypernatriuria, Abnormal urine potassium concentration, He... ORPHA:275761
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Secretory diarrhea, Necrotizing enterocolitis, Hypokalemia, Hepatomegaly, Hyp... OMIM:619573
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Scorpion Envenomation
Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Hypokalemia, Increased circulatin... ORPHA:466677
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Decreased circulating renin level OMIM:202010
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Ethylene Glycol Poisoning
Vomiting, Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Dec... ORPHA:31826
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... OMIM:201810
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Nephroblastoma, Renal malr... ORPHA:500095
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Secretory diarrhea, Acute colitis, Hyp... ORPHA:544482
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Addison Disease
Diarrhea, Failure to thrive, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Weight los... ORPHA:85138
Marburg Hemorrhagic Fever
Hypoalbuminemia, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Hyperamylasem... ORPHA:99826
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Vomiting, Abnormal circulating cholesterol concentration, Failure to thrive... ORPHA:168558
Ogden Syndrome
Diarrhea, Vomiting, Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Dysphagia, Polyc... OMIM:300855
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:786
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Vomiting, Hyperkalemia, Failure to thrive ORPHA:90790
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Vomiting, Abnormal circulating cholesterol concentration, Failure to thrive... ORPHA:289548
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Nelson Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:199244
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Failure to thrive, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:608885
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Vomiting, Weight loss ORPHA:91347
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Vomiting, Hypocalcemia, Elevated circulating cr... ORPHA:466650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Vomiting, Failure to thrive, Hypernatriuria, Hyponatremia, Weight loss, Elevated urin... ORPHA:90794
Cardiac-Urogenital Syndrome
Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega... OMIM:312870
Proteus Syndrome
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Cachexia, Enlarged kidney ORPHA:744
Vascular Ehlers-Danlos Syndrome
Cystocele, Hypokalemia, Bladder diverticulum, Renovascular hypertension, Hypospadias ORPHA:286
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Chordee... 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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