banner
Genes Phenotypes Help, News, Blog

Gene: Atp6v1d MGI:1921084

Log in to follow

Gene Summary

Name:
ATPase, H+ transporting, lysosomal V1 subunit D
Synonyms:
Atp6m,  Vma8,  VATD,  lysosomal 34kDa,  1110004P10Rik

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
abnormal sinus arrhythmia Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 4.85×10-08
cardiovascular system phenotype Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 6.65×10-06
decreased mean platelet volume Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 1.87×10-05
preweaning lethality, complete penetrance Atp6v1dtm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Atp6v1dtm1b(EUCOMM)Hmgu HOM   E12.5 0.00
embryonic lethality prior to organogenesis Atp6v1dtm1b(EUCOMM)Hmgu HOM   E9.5 0.00
increased lean body mass Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 3.95×10-05
decreased locomotor activity Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 6.77×10-05
increased heart rate variability Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 2.63×10-05
thrombocytosis Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 9.32×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 100% (2 of 2)
Brain N/A heterozygote 60% (3 of 5)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 60% (3 of 5)
Embryo N/A heterozygote 100% (5 of 5)
Eye N/A heterozygote 60% (3 of 5)
Footplate N/A heterozygote 20% (1 of 5)
Forebrain N/A heterozygote 60% (3 of 5)
Forelimb N/A heterozygote 60% (3 of 5)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 20% (1 of 5)
Head N/A heterozygote 60% (3 of 5)
Heart N/A heterozygote 60% (3 of 5)
Hindbrain N/A heterozygote 60% (3 of 5)
Hindlimb N/A heterozygote 60% (3 of 5)
Liver N/A heterozygote 60% (3 of 5)
Lung N/A heterozygote 60% (3 of 5)
Mandibular process N/A heterozygote 60% (3 of 5)
Maxillary process N/A heterozygote 60% (3 of 5)
Midbrain N/A heterozygote 60% (3 of 5)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 60% (3 of 5)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 60% (3 of 5)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 60% (3 of 5)
Tail N/A heterozygote 20% (1 of 5)
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.

Embryo LacZ

LacZ images wholemount

70 Images

View images
X-ray

XRay Images Skull Lateral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

21 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

21 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images
Eye Morphology

Images Ophthalmoscopy

1 Images

View images

Human diseases caused by Atp6v1d 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 Atp6v1d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocythemia 3
Thrombocytosis, Ischemic stroke OMIM:614521
Polycythemia Vera
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... OMIM:263300
Thrombocytopenia 3
Epistaxis, Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Cong... ORPHA:75564
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Thrombocytopenia 1
Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... OMIM:314050
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... OMIM:155100
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis in the skin, Failure to thrive, Decreased mean platelet volume, Thrombo... OMIM:617718
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bernard-Soulier Syndrome
Epistaxis, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Macrothrombocytopenia,... OMIM:231200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Myocardial infarction, Giant platelets, Congenital thrombocytop... ORPHA:182050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Large vessel vasculitis, Absent microvilli on the surface of peripheral ... OMIM:301000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly OMIM:209950
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Primary Myelofibrosis
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis,... ORPHA:824
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia ORPHA:238459
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly OMIM:604416
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... OMIM:614034
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Familial Thrombocytosis
Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Weight loss, Transien... ORPHA:71493
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Leukopenia, Anemia, Weight loss, Cardiac arrest, Dilated cardiomyopathy, Ataxia, Thr... ORPHA:20
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Failure to thrive, Thrombocy... OMIM:615934
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Thrombocytosis, Iron deficiency anemia, Budd-Chiari syndrome OMIM:226300
Beta-Ketothiolase Deficiency
Hypotension, Weight loss, Hypertension, Ataxia, Thrombocytosis, Leukocytosis ORPHA:134
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... OMIM:169400
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Autoimmune thrombocytopenia, Epistaxis, Abnormal erythrocyte morphology,... ORPHA:324636
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Spontaneous, recurrent epistaxis, Gastrointestinal hemor... ORPHA:274
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Raynaud phenomenon, Dilated cardiomyopathy, Hypertension, Hepatosplenomegaly,... OMIM:615688
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Thrombocytosis, Leukocytosis,... ORPHA:94093
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Cogan Syndrome
Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis, Leukocytosis, Vasculitis ORPHA:1467
Celiac Disease, Susceptibility To, 1
Weight loss, Ataxia, Failure to thrive, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia OMIM:212750
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Pericarditis, Failure to thrive, Dysmetria, Thrombocytosis, Cardiomyopathy OMIM:212065
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Anemia, Transient ischemic attack, Supraventricular arrhythmia, Raynaud pheno... ORPHA:3260
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... ORPHA:124
Poems Syndrome
Pulmonary arterial hypertension, Thrombocytosis, Polycythemia, Weight loss ORPHA:2905
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Hepatocellular Carcinoma
Hypotension, Anemia, Weight loss, Polycythemia, Internal hemorrhage, Thrombocytopenia, Thrombocyt... ORPHA:88673
Diamond-Blackfan Anemia 1
Reticulocytopenia, Congestive heart failure, Failure to thrive, Thrombocytosis, Tricuspid stenosi... OMIM:105650
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Ataxia, Macrothrombocytopenia, Aortic r... OMIM:603585
Trichohepatoenteric Syndrome 1
Small for gestational age, Pulmonic stenosis, Increased mean platelet volume, Aortic regurgitatio... OMIM:222470
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Pulmonic stenosis, Ataxia OMIM:616737
Syndromic Diarrhea
Hypoplasia of the thymus, Small for gestational age, Increased mean platelet volume, Lymphopenia,... ORPHA:84064
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Brucellosis
Leukopenia, Anemia, Weight loss, Small for gestational age, Transient ischemic attack, Hypersplen... ORPHA:1304
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Weight loss, Lymphocytosis, Thrombocytosis, Decreased proporti... OMIM:301074
Interstitial Lung And Liver Disease
Failure to thrive, Anemia, Thrombocytosis OMIM:615486
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Failure to thrive in infancy, Anemia, Giant platelets OMIM:611209
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Epistaxis, Increased RB... OMIM:187900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Lathosterolosis
Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc... OMIM:607330
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... ORPHA:2968
Doors Syndrome
Thrombocytosis ORPHA:79500

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.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH pathological process term hyperplasia Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult

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 Atp6v1d.

No publications found that use IMPC mice or data for Atp6v1d.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Atp6v1dtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Atp6v1dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atp6v1dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp6v1dtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter