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Gene: Atp6v1d MGI:1921084

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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
increased heart rate variability Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 2.63×10-05
cardiovascular system phenotype Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 6.65×10-06
embryonic lethality prior to tooth bud stage Atp6v1dtm1b(EUCOMM)Hmgu HOM   E12.5 0.00
increased lean body mass Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 3.96×10-05
abnormal sinus arrhythmia Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 4.85×10-08
decreased mean platelet volume Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 1.87×10-05
thrombocytosis Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 9.38×10-06
embryonic lethality prior to organogenesis Atp6v1dtm1b(EUCOMM)Hmgu HOM   E9.5 0.00
preweaning lethality, complete penetrance Atp6v1dtm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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 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 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 Whole Body Dorso Ventral

21 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Embryo LacZ

LacZ images wholemount

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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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
Ischemic stroke, Thrombocytosis OMIM:614521
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Thrombocytopenia OMIM:273900
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:620484
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... ORPHA:75564
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Joint hemorrhage, Intermi... OMIM:313900
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Transient ischemic attack, Leukocytosis, Splenomegal... ORPHA:3318
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Failure to thrive, Lymphocytosis, Throm... OMIM:617718
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Myocardial infarction, Congenital thrombocytop... ORPHA:182050
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope... OMIM:301000
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis OMIM:604416
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Hypertension, Coombs-positive hemolytic anemia, Thrombocy... OMIM:614034
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia OMIM:616176
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... ORPHA:71493
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Budd-Chiari syndrome, Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Telangiectasia, Raynaud phenomenon, Thrombocytosis, A... OMIM:615934
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Pelger-Huet Anomaly
Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut... OMIM:169400
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Abnormal erythrocyte morpholo... ORPHA:324636
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Beta-Ketothiolase Deficiency
Hypotension, Leukocytosis, Weight loss, Thrombocytosis, Hypertension ORPHA:134
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Leukopenia, Leukocytosis, Weight loss, Thrombocytosis, Anemi... ORPHA:20
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, I... OMIM:243150
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou... ORPHA:274
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Leukocytosis, Bradycardia, Arrhythmia, Thro... ORPHA:94093
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis, Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Congestive heart failure, Hepatosp... ORPHA:3260
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Poems Syndrome
Polycythemia, Splenomegaly, Pulmonary arterial hypertension, Weight loss, Thrombocytosis ORPHA:2905
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Le... OMIM:615688
Celiac Disease, Susceptibility To, 1
Failure to thrive, Macrocytic anemia, Iron deficiency anemia, Weight loss, Thrombocytosis OMIM:212750
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Failure to thrive, Splenomegaly, Thrombocytosis, Small for gestational age,... OMIM:222470
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Failure to thrive, Pericarditis, Thrombocytosis OMIM:212065
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Syndromic Diarrhea
Aortic regurgitation, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Small ... ORPHA:84064
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... OMIM:301074
Interstitial Lung And Liver Disease
Anemia, Failure to thrive, Thrombocytosis OMIM:615486
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Thrombocytopenia, Increased mean platelet volume OMIM:616737
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granul... OMIM:187900
Brucellosis
Arteritis, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Transient is... ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Failure to thrive in infancy, Giant platelets, Thrombocytopenia OMIM:611209
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia,... OMIM:603585
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Failure to thrive, Thrombocytosis OMIM:618213
Kawasaki Disease
Vasculitis, Congestive heart failure, Leukocytosis, Arrhythmia, Thrombocytosis, Myocarditis, Peri... ORPHA:2331
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leukocytosis, Impaired neutro... 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.

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

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