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Gene: Atp6v0b MGI:1890510

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Gene Summary

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

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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
abnormal behavior Atp6v0bem1(IMPC)J HET   Early adult 9.50×10-05
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
preweaning lethality, complete penetrance Atp6v0bem1(IMPC)J HOM   Early adult 0.00
decreased bone mineral content Atp6v0bem1(IMPC)J HET   Early adult 1.31×10-11
decreased bone mineral density Atp6v0bem1(IMPC)J HET   Early adult 1.87×10-05
hyperactivity Atp6v0bem1(IMPC)J HET Early adult 2.27×10-05
abnormal bone structure Atp6v0bem1(IMPC)J HET Early adult 4.32×10-06
decreased lean body mass Atp6v0bem1(IMPC)J HET Early adult 1.18×10-05
decreased locomotor activity Atp6v0bem1(IMPC)J HET Early adult 4.96×10-06
decreased exploration in new environment Atp6v0bem1(IMPC)J HET Early adult 3.78×10-05

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 Forepaw

9 Images

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Combined SHIRPA and Dysmorphology

Images

7 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

11 Images

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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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
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, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia, Hyperactivity OMIM:234500
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Weight loss, Hyperactivity, Ataxia, Deme... ORPHA:248111
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Gait ataxia, Aggressive ... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Ck Syndrome
Slender build, Abnormal cortical bone morphology, Joint hypermobility, Irritability, Aggressive b... OMIM:300831
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Hyperactivity, Decreased body weight OMIM:608747
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Hyperlysinemia, Type I
Short attention span, Cognitive impairment, Hyperactivity, Anemia, Dysdiadochokinesis OMIM:238700
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Splenomegaly, Aggressive behavior, Hyperactivity, Progressive neurologic deterio... OMIM:252920
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Splenomegaly, Hernia, Hyperactivity, Motor deterioration, Dysphagia, Dense calvaria OMIM:252930
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Short attention span, Recurre... ORPHA:98794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilati... ORPHA:163681
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Joint stiffness, Splenomegaly, Inguinal hernia, Hyperactivity, Dense calvaria OMIM:252900
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Hamstr... ORPHA:139396
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Short attention span, Emotional lability, Dysmetria, Gait ataxia, Hyperacti... OMIM:610217
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Acanthocytosis, Obsessive-compulsive tra... OMIM:234200
Choreoacanthocytosis
Mental deterioration, Acanthocytosis, Emotional lability, Hair-pulling, Loss of ambulation, Weigh... ORPHA:2388
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Chorioretinal scar, Reduced hematocrit, Weight loss, Anorexia, Normochromic an... ORPHA:91500
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Septic arthritis, Painless fractures due to injury, Fasciitis, Difficu... 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

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