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Gene: Atp6v0a1 MGI:103286

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Gene Summary

Name:
ATPase, H+ transporting, lysosomal V0 subunit A1
Synonyms:
V-ATPase a1,  Vpp1,  Vpp-1,  Atp6n1a,  Atp6n1

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Atp6v0a1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased bone mineral content Atp6v0a1tm1b(EUCOMM)Hmgu HET Early adult 1.93×10-05
increased circulating potassium level Atp6v0a1tm1b(EUCOMM)Hmgu HET Early adult 3.10×10-18
embryonic lethality prior to tooth bud stage Atp6v0a1tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
embryonic lethality prior to organogenesis Atp6v0a1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
decreased total body fat amount Atp6v0a1tm1b(EUCOMM)Hmgu HET Early adult 8.52×10-07

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 28.57% (2 of 7)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 28.57% (2 of 7)
Embryo N/A heterozygote 100% (7 of 7)
Eye N/A heterozygote 28.57% (2 of 7)
Footplate N/A heterozygote 0.0% (0 of 7)
Forebrain N/A heterozygote 28.57% (2 of 7)
Forelimb N/A heterozygote 28.57% (2 of 7)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 7)
Head N/A heterozygote 0.0% (0 of 7)
Heart N/A heterozygote 28.57% (2 of 7)
Hindbrain N/A heterozygote 28.57% (2 of 7)
Hindlimb N/A heterozygote 28.57% (2 of 7)
Liver N/A heterozygote 28.57% (2 of 7)
Lung N/A heterozygote 28.57% (2 of 7)
Mandibular process N/A heterozygote 28.57% (2 of 7)
Maxillary process N/A heterozygote 28.57% (2 of 7)
Midbrain N/A heterozygote 28.57% (2 of 7)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 28.57% (2 of 7)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 28.57% (2 of 7)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 28.57% (2 of 7)
Tail N/A heterozygote 0.0% (0 of 7)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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 Skull Dorso Ventral Orientation

12 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Embryo LacZ

LacZ images wholemount

28 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Atp6v0a1 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.

The table below shows human diseases associated to Atp6v0a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Cerebellar atrophy, Attention deficit hyperactivity disorder, Ataxia, Myoclonu... OMIM:619971
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970

The table below shows human diseases predicted to be associated to Atp6v0a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Elevated circula... OMIM:620366
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Hypokalemia OMIM:267200
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex... ORPHA:682
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia, Hypokalemia OMIM:179800
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia, Chondrocalcinosis OMIM:154020
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia OMIM:602722
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Cerebellar atrophy, Attention deficit hyperactivity disorder, Ataxia, Myoclonu... OMIM:619971
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Liddle Syndrome
Hypokalemia ORPHA:526
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Hypophosphatemia, Hypokalemia OMIM:134600
Mirage Syndrome
Hyperkalemia, Hyponatremia, Radial club hand OMIM:617053
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia OMIM:611590
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia ORPHA:97362
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Hypokalemia OMIM:604278
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, ... OMIM:227810
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:90791
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo... ORPHA:289548
Corticosteroid-Binding Globulin Deficiency
Reduced circulating cortisol-binding globulin concentration, Hypokalemia OMIM:611489
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia ORPHA:95409
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Addison Disease
Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Increased circulating renin level... ORPHA:85138
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Cystinosis
Rickets, Hypophosphatemia, Hypokalemia ORPHA:213
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
East Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia ORPHA:199343
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia ORPHA:544482
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Increased serum bile acid concentration, Hypokalemia OMIM:619377
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia OMIM:617913
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre... OMIM:601678
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Osteoporosis OMIM:219090
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Mercury Poisoning
Hypokalemia ORPHA:330021
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Gitelman Syndrome
Increased circulating renin level, Hypokalemia, Hypomagnesemia, Chondrocalcinosis OMIM:263800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hypomagnesemia, Hypokalemia OMIM:612780
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperchloriduria, Hypokalemia OMIM:607364
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Decreased circulating renin level, Camptodactyly, Hyponatremia, Craniosynostosis, J... OMIM:201750
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre... OMIM:241200
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Reduced bone mineral density, Hypokalemia ORPHA:18
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased C-peptide level, Hypokalemia ORPHA:769
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Hypokalemia OMIM:170390
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulatin... OMIM:219800
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:602522
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Hypokalemia, Abnormal dental enamel morphology, Hyponatremia, Hypophosphatemia, ... ORPHA:534
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Proximal Renal Tubular Acidosis
Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Enamel hypomineralization ORPHA:47159
Vipoma
Subcutaneous lipoma, Hypercalcemia, Hypokalemia ORPHA:97282
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Chondrocalcinosis ORPHA:358
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia ORPHA:699
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hypokalemia, Osteoporosis ORPHA:91347
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Leprechaunism
Increased circulating renin level, Reduced subcutaneous adipose tissue, Hypokalemia ORPHA:508
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concentration, ... ORPHA:466677
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Hypokalemia, Cigarette-paper scars, Uterine prolapse, Umbilical hernia, Cystocel... ORPHA:286
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970

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 Atp6v0a1

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 Atp6v0a1.

No publications found that use IMPC mice or data for Atp6v0a1.

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
Atp6v0a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atp6v0a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp6v0a1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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