Gene Summary

Name:
ATPase, class I, type 8B, member 2
Synonyms:
Id

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
increased bone mineral content Atp8b2tm1a(KOMP)Wtsi HOM   Early adult 1.18×10-05
preweaning lethality, incomplete penetrance Atp8b2tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Atp8b2tm1a(KOMP)Wtsi HOM   Early adult 3.45×10-06
decreased circulating serum albumin level Atp8b2tm1a(KOMP)Wtsi HOM   Early adult 6.39×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

9 Images

X-ray

XRay Images Forepaw

18 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

Ear epidermis immunophenotyping

Images

6 Images

Legacy Phenotype Associated Images

View all 110 images

Human diseases caused by Atp8b2 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 Atp8b2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Hypoalbuminemia ORPHA:88643
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... OMIM:616000
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration OMIM:246700
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Osteoporosis, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Leishmaniasis
Hypoalbuminemia ORPHA:507
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Neonatal death, Hypoalbuminemia OMIM:619055
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia ORPHA:1667
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Osteopenia, Hypoalbuminemia OMIM:212065
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Aicardi-Goutieres Syndrome 9
Osteoporosis, Hypoalbuminemia OMIM:619487
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Abetalipoproteinemia
Osteopenia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyp... ORPHA:14
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis OMIM:235510
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Abnormal bone ossification, Hypoalbuminemia ORPHA:79324
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Decreased plasma carnitine, Hypoalbuminemia, Abnormal... ORPHA:89842
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Hypocalcemia, Thin bony cortex, Hypoalbuminemia, Reduced bone mineral density, Unconj... OMIM:613658
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Hypoalbuminemia ORPHA:79396
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Hypoalbuminemia, Reduced circulating transferrin concentration, Decreased pr... ORPHA:90363
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Hypoalbuminemia, Abnormal circulat... ORPHA:2298
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Hypoalbuminemia ORPHA:171
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevated circulating... ORPHA:99826
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Osteomalacia OMIM:619381
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Reduced thyroxin-binding globulin, Osteopenia, Osteoporosis, Hypoalbuminemia ORPHA:79318

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 Atp8b2

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 Atp8b2.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A trans-eQTL network regulates osteoclast multinucleation and bone mass. eLife (June 2020) Atp8b2tm1a(KOMP)Wtsi PMC7351491
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Atp8b2tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Atp8b2tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Atp8b2tm1a(KOMP)Wtsi Atp8b2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Atp8b2tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Atp8b2tm1a(KOMP)Wtsi