banner
Genes Phenotypes Help, News, Blog

Gene: Atp8a1 MGI:1330848

Log in to follow

Gene Summary

Name:
ATPase phospholipid transporting 8A1
Synonyms:
Atp3a2,  B230107D19Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 blood urea nitrogen level Atp8a1tm1a(EUCOMM)Wtsi HOM Early adult 2.70×10-06
increased mean corpuscular hemoglobin concentration Atp8a1tm1a(EUCOMM)Wtsi HOM Early adult 8.51×10-10
increased startle reflex Atp8a1tm1a(EUCOMM)Wtsi HOM Early adult 5.08×10-07
increased lactate dehydrogenase level Atp8a1tm1a(EUCOMM)Wtsi HOM Early adult 3.71×10-06
decreased erythrocyte cell number Atp8a1tm1a(EUCOMM)Wtsi HOM Early adult 3.33×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Atp8a1 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 Atp8a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen OMIM:617872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia ORPHA:251004
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Cockayne Syndrome Type 1
Anemia, Increased blood urea nitrogen, Tremor ORPHA:90321
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp... OMIM:223360
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hype... OMIM:613280
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernatremia OMIM:620423
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Asparagine Synthetase Deficiency
Hypoasparaginemia, Tremor, Exaggerated startle response OMIM:615574
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Decreased circulating iron concentration, Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Atp8a1

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 Atp8a1.

No publications found that use IMPC mice or data for Atp8a1.

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
Atp8a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, 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