banner
Genes Phenotypes Help, News, Blog

Gene: Atp6v0b MGI:1890510

Log in to follow

Gene Summary

Name:
ATPase, H+ transporting, lysosomal V0 subunit B
Synonyms:
Atp6f,  2310024H13Rik,  VMA16

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 total body fat amount Atp6v0bem1(IMPC)J HET Early adult 1.34×10-09
increased hematocrit Atp6v0bem1(IMPC)J HET   Early adult 1.63×10-05
abnormal behavior Atp6v0bem1(IMPC)J HET   Early adult 9.50×10-05
preweaning lethality, complete penetrance Atp6v0bem1(IMPC)J HOM   Early adult 0.00
hyperactivity Atp6v0bem1(IMPC)J HET Early adult 2.33×10-05
abnormal bone structure Atp6v0bem1(IMPC)J HET Early adult 4.32×10-06
decreased locomotor activity Atp6v0bem1(IMPC)J HET Early adult 5.22×10-06
decreased exploration in new environment Atp6v0bem1(IMPC)J HET Early adult 3.78×10-05
decreased bone mineral density Atp6v0bem1(IMPC)J HET   Early adult 1.87×10-05
decreased bone mineral content Atp6v0bem1(IMPC)J HET   Early adult 1.31×10-11
decreased lean body mass Atp6v0bem1(IMPC)J HET Early adult 1.18×10-05

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.

Combined SHIRPA and Dysmorphology

Images

7 Images

View images
X-ray

XRay Images Forepaw

9 Images

View images
Eye Morphology

Images Ophthalmoscopy

6 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

11 Images

View images
PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

View images

Human diseases caused by Atp6v0b 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 Atp6v0b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Erythrocytosis, Familial, 2
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... OMIM:263400
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Lethargy, Aggressive behavior OMIM:605899
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Landau-Kleffner Syndrome
Steppage gait, Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention ... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Memory impairment, Hyperactivity, Attention de... OMIM:619827
Lennox-Gastaut Syndrome
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Ck Syndrome
Irritability, Abnormal cortical bone morphology, Hyperactivity, Slender build, Joint hypermobilit... OMIM:300831
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu... OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Obesity, Inappropriate laughte... ORPHA:411515
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Short attention span, Osteopenia OMIM:608747
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attentio... OMIM:620141
Hyperlysinemia, Type I
Anemia, Hyperactivity, Dysdiadochokinesis, Short attention span, Cognitive impairment OMIM:238700
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Hyperactivity, Joint stiffness, Splenomegaly, Progressive neurologic deterioratio... OMIM:252920
Mucopolysaccharidosis, Type Iiic
Dense calvaria, Hyperactivity, Joint stiffness, Dysphagia, Splenomegaly, Hernia, Motor deterioration OMIM:252930
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Short... ORPHA:98794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Inguinal hernia, Hyperactivity, Joint stiffness, Splenomegaly, Umbilical hernia OMIM:252900
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Joint hypermobility, Hyperactivity, Depression, Recurrent... ORPHA:449291
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Memory impairment, Hyperactivity, Confusion, Short attenti... ORPHA:139396
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Ataxia, Motor stereotypy, Attention deficit hy... OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Emotional lability, Dysdiadochokinesis, Short attention span, Impuls... OMIM:610217
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leu... OMIM:617052
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Bradykinesia, Akinesia, Dementia, Hyperactivity, Depression, Gait dis... OMIM:234200
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Normocytic anemia, Reduced hematocrit, Normochromic anemia, Chorioretinal scar, Weight ... ORPHA:91500
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormal emotion, Difficulty walking, Anemia, Nail-biting, Hyperactivity, Short attention span, I... ORPHA:642

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 Atp6v0b

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 Atp6v0b.

No publications found that use IMPC mice or data for Atp6v0b.

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
Atp6v0btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp6v0btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Atp6v0bem1(IMPC)J Whole-gene deletion Mice
Atp6v0btm1e(EUCOMM)Hmgu Targeted, non-conditional allele 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