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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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Atp6v0a1tm1b(EUCOMM)Hmgu HET Early adult 8.55×10-07
increased bone mineral content Atp6v0a1tm1b(EUCOMM)Hmgu HET Early adult 1.92×10-05
embryonic lethality prior to organogenesis Atp6v0a1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
increased circulating potassium level Atp6v0a1tm1b(EUCOMM)Hmgu HET Early adult 3.11×10-18
preweaning lethality, complete penetrance Atp6v0a1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Atp6v0a1tm1b(EUCOMM)Hmgu HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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 Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Combined SHIRPA and Dysmorphology

Images

1 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, Spastic tetraplegia, Cerebellar hypoplasia, Myoclonus, Ataxia, Attention defic... OMIM:619971
Developmental And Epileptic Encephalopathy 104
Hyperactivity, 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
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, 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
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:610600
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Renal Tubular Acidosis Iii
Rickets, Hypokalemia, Osteomalacia OMIM:267200
Hyperkalemic Periodic Paralysis
Flexion contracture, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:682
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Osteomalacia OMIM:179800
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556037
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556030
Congenital Isolated Acth Deficiency
Hyperkalemia, Hyponatremia ORPHA:199296
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia OMIM:602722
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Fanconi-Bickel Syndrome
Osteomalacia, Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypokalemia, Hypouricemia OMIM:227810
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Spastic tetraplegia, Cerebellar hypoplasia, Myoclonus, Ataxia, Attention defic... OMIM:619971
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
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
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Hypophosphatemia, Osteomalacia OMIM:134600
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia ORPHA:199299
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Mirage Syndrome
Radial club hand, Hyperkalemia, Hyponatremia OMIM:617053
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... 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
Hypokalemia, Hyperamylasemia OMIM:604278
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... ORPHA:289548
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Acute Adrenal Insufficiency
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia ORPHA:95409
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Addison Disease
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Increased circulating renin level... ORPHA:85138
Cystinosis
Rickets, Hypokalemia, Hypophosphatemia ORPHA:213
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
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, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Corticosteroid-Binding Globulin Deficiency
Hypokalemia OMIM:611489
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyperkalemia, Hyponatremia ORPHA:293978
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia ORPHA:275761
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
East Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration ORPHA:466650
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia OMIM:617913
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Reduced bone mineral density OMIM:619377
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Osteoporosis OMIM:219090
Infantile Nephropathic Cystinosis
Rickets, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosphatemic rickets... ORPHA:3337
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Hyperlipidemia, Hyponatremia ORPHA:293987
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Gitelman Syndrome
Hypokalemia, Chondrocalcinosis, Hypomagnesemia, Increased circulating renin level OMIM:263800
Mercury Poisoning
Hypokalemia ORPHA:330021
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyperkalemia, Hyponatremia ORPHA:90794
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:612780
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:241200
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Decreased circulating renin level, Camptodactyly, Hyperkalemia, Hy... OMIM:201750
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Hypokalemia OMIM:170390
Distal Renal Tubular Acidosis
Rickets, Hypokalemia, Osteomalacia, Reduced bone mineral density ORPHA:18
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased C-peptide level, Hypokalemia ORPHA:769
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Rickets, ... OMIM:219800
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Osteomalacia, Hypophosphatemia, Hypokalemia, Inguinal hernia, Hyponatremia,... ORPHA:534
Bartter Syndrome Type 4
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia ORPHA:89938
Vipoma
Hypokalemia, Hypercalcemia, Subcutaneous lipoma ORPHA:97282
Proximal Renal Tubular Acidosis
Hypokalemia, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density ORPHA:47159
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Hypermagnesemia, Chondrocalcinosis, Hypomagnesemia ORPHA:358
Pearson Syndrome
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:699
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Tsh-Secreting Pituitary Adenoma
Osteoporosis, Hypokalemia, Osteopenia ORPHA:91347
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... ORPHA:99826
Leprechaunism
Reduced subcutaneous adipose tissue, Hypokalemia, Increased circulating renin level ORPHA:508
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Inguinal hernia, Osteolysis, Cigarette-paper scars, Cystocele, Uterine prolapse, Umb... ORPHA:286
Developmental And Epileptic Encephalopathy 104
Hyperactivity, 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

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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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