Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
embryonic lethality prior to organogenesis Atp6v1dtm1b(EUCOMM)Hmgu HOM   E9.5 0.00
embryonic lethality prior to tooth bud stage Atp6v1dtm1b(EUCOMM)Hmgu HOM   E12.5 0.00
cardiovascular system phenotype Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 6.65×10-06
increased heart rate variability Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 2.63×10-05
decreased locomotor activity Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 6.84×10-05
abnormal sinus arrhythmia Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 4.85×10-08
increased lean body mass Atp6v1dtm1b(EUCOMM)Hmgu HET Early adult 3.96×10-05
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
preweaning lethality, complete penetrance Atp6v1dtm1b(EUCOMM)Hmgu HOM   Early adult 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 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 Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Embryo LacZ

LacZ images wholemount

70 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Ophthalmoscopy

1 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
Ischemic stroke, Thrombocytosis OMIM:614521
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis OMIM:273900
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Thrombocytopenia 10
Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:620484
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... ORPHA:75564
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge... OMIM:313900
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Bleeding Disorder, Platelet-Type, 25
Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in... OMIM:620486
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Transient ischemic attack, Leukocytosis, Abnormal platelet morpho... ORPHA:3318
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Vasculitis, Failure to thrive, Vasculitis in the s... OMIM:617718
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,... OMIM:231200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Myh9-Related Disease
Myocardial infarction, Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epist... ORPHA:182050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Primary Myelofibrosis
Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Portal hypertension, Poikilocytosis... ORPHA:824
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai... OMIM:301000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytosis, Histiocytosis OMIM:209950
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia ORPHA:238459
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Heme Oxygenase 1 Deficiency
Hypertension, Asplenia, Epistaxis, Coombs-positive hemolytic anemia, Diffuse alveolar hemorrhage,... OMIM:614034
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis OMIM:616176
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten... ORPHA:71493
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, L... ORPHA:729
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Thrombocytosis, Iron deficiency anemia, Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Cardiac arrest, Leukocytosis, Hypotension, Leukopenia, Ataxia, Weight loss, Dilated cardi... ORPHA:20
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Failure to thrive, Leukopenia, Raynaud phenomenon, Lymphopenia, Thrombocytosis, Telangiec... OMIM:615934
Beta-Ketothiolase Deficiency
Hypertension, Leukocytosis, Hypotension, Ataxia, Weight loss, Thrombocytosis ORPHA:134
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia OMIM:620475
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive, Thrombocytopenia, Abno... OMIM:169400
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Joint hemorrhage, Epistaxis, Intracrania... ORPHA:324636
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Bernard-Soulier Syndrome
Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr... ORPHA:274
Neuroleptic Malignant Syndrome
Pulmonary embolism, Bradycardia, Hypertension, Leukocytosis, Hypertensive crisis, Hypotension, Th... ORPHA:94093
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Failure to thrive, Ataxia, Weight loss, Thrombocytosis OMIM:212750
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Pancytopenia, Vasculitis, Hypertension, Leukocytosis, Portal hypertension, Leukopenia, Sp... OMIM:615688
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Cogan Syndrome
Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Leukocytosis, Thrombocytosis ORPHA:1467
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Failure to thrive, Pericarditis, Ataxia, Thrombocytosis, Dysmetria OMIM:212065
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Congestive heart failure, Anemia, Supraventricular arrhythmia, Myeloprolifera... ORPHA:3260
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Poems Syndrome
Pulmonary arterial hypertension, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis ORPHA:2905
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Pulmonic stenosis, Failure to thrive, Increased mean platelet volume, Splen... OMIM:222470
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... OMIM:105650
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Ataxia, Macrothromboc... OMIM:603585
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Ataxia OMIM:616737
Syndromic Diarrhea
Aortic regurgitation, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lym... ORPHA:84064
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Weight loss, Decreased proportion of memor... OMIM:301074
Interstitial Lung And Liver Disease
Failure to thrive, Thrombocytosis, Anemia OMIM:615486
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Brucellosis
Myocarditis, Anemia, Arteritis, Transient ischemic attack, Leukocytosis, Failure to thrive, Peric... ORPHA:1304
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ... OMIM:187900
Kawasaki Disease
Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Pericarditis, Arrhythmia, Thromb... ORPHA:2331
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... 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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