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Gene: Atp6v1b2 MGI:109618

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Gene Summary

Name:
ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms:
Atp6b2,  HO57

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
embryonic lethality prior to organogenesis Atp6v1b2tm1b(KOMP)Wtsi HOM   E9.5 0.00
decreased mean corpuscular volume Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 5.31×10-05
decreased mean corpuscular hemoglobin concentration Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 3.39×10-07
small lymph nodes Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 0.00
decreased mean corpuscular hemoglobin Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 5.90×10-15
preweaning lethality, complete penetrance Atp6v1b2tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Atp6v1b2tm1b(KOMP)Wtsi HOM   E12.5 0.00
decreased hemoglobin content Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 3.38×10-10
increased circulating alkaline phosphatase level Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 2.76×10-05
small adrenal glands Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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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 0.0% (0 of 5)
Brain N/A heterozygote 0.0% (0 of 6)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 5)
Ear N/A heterozygote 0.0% (0 of 6)
Embryo N/A heterozygote 66.67% (4 of 6)
Eye N/A heterozygote 0.0% (0 of 6)
Footplate N/A heterozygote 0.0% (0 of 6)
Forebrain N/A heterozygote 0.0% (0 of 6)
Forelimb N/A heterozygote 0.0% (0 of 6)
Gut N/A heterozygote 0.0% (0 of 5)
Handplate N/A heterozygote 0.0% (0 of 6)
Head N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 66.67% (4 of 6)
Hindbrain N/A heterozygote 0.0% (0 of 6)
Hindlimb N/A heterozygote 0.0% (0 of 6)
Liver N/A heterozygote 0.0% (0 of 6)
Lung N/A heterozygote 0.0% (0 of 6)
Mandibular process N/A heterozygote 0.0% (0 of 6)
Maxillary process N/A heterozygote 0.0% (0 of 6)
Midbrain N/A heterozygote 0.0% (0 of 6)
Nose N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A heterozygote 0.0% (0 of 6)
Skeleton N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 6)
Spinal cord N/A heterozygote 0.0% (0 of 5)
Tail somite N/A heterozygote 0.0% (0 of 6)
Tail N/A heterozygote 0.0% (0 of 6)
Trachea N/A heterozygote 0.0% (0 of 5)
Urinary system N/A heterozygote 80% (4 of 5)

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.

Embryo LacZ

LacZ images wholemount

86 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Eye Morphology

Images Slit Lamp

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Human diseases caused by Atp6v1b2 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.

The table below shows human diseases associated to Atp6v1b2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Seizure ORPHA:79499
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, Congenital hypothyroidism ORPHA:79500
Zimmermann-Laband Syndrome
Growth delay, Seizure ORPHA:3473
Zimmermann-Laband Syndrome 2
Short stature OMIM:616455
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
OMIM:124480

The table below shows human diseases predicted to be associated to Atp6v1b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Seizure, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:619970
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior, Seizure OMIM:607417
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Atypical absence se... OMIM:617113
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Impulsivity, Gait ataxia, Dysphagia, Status epilepticus OMIM:620448
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Hartnup Disorder
Hyperactivity, Emotional lability, Seizure, Episodic ataxia, Attention deficit hyperactivity diso... OMIM:234500
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Falls, Hyperactivity, Bilateral... ORPHA:2382
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Seizure, Bilateral tonic-clonic seizure, Foc... ORPHA:208441
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Seizure, Athetosis, Bilateral tonic-clonic seizure,... ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal... ORPHA:848
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Seizure,... ORPHA:3077
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Cholelithiasis, Reticulocytosis, Hepatosplenomegal... ORPHA:846
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpuscular volu... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... OMIM:603552
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Microcytic anemia, Splenomegaly, Recurrent tonsillitis OMIM:618852
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c OMIM:616511
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hypoparathyroidism, Cholelithiasis, Anemia of inadequate product... ORPHA:231222
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Elevated hemoglobin A1c, Diabetes mellit... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level OMIM:606176
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein concentration, Ab... ORPHA:54251
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... ORPHA:404
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... ORPHA:403
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Dominant Beta-Thalassemia
Delayed puberty, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hypoparathyroidi... ORPHA:231226
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Beta-Thalassemia Major
Anisopoikilocytosis, Delayed puberty, Abnormality of iron homeostasis, Hypochromic microcytic ane... ORPHA:231214
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hypokalemia OMIM:613677
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu... OMIM:612840
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone level, Hydrocele t... ORPHA:96181
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh... ORPHA:2169
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Elevated hemoglobin A1c OMIM:609812
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive p... ORPHA:231580
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l... ORPHA:90791
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Leukopenia,... ORPHA:811
Tafro Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr... ORPHA:457077
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Cryptorchidism, Microcytic anemia ORPHA:98791
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Seizure, Abnormal fear-induced behavior ORPHA:309246
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... OMIM:127550
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism, Hypokalemia ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentrat... OMIM:201810
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, Decreased ... ORPHA:90790
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Prima... ORPHA:189427
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia ORPHA:261250
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, A... ORPHA:786
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Pure red cell aplasia, Imbalanced hemoglobin synt... ORPHA:99867
Lead Poisoning
Abnormal T cell morphology, Delayed puberty, Decreased HDL cholesterol concentration, Anemia, Inc... ORPHA:330015
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio... ORPHA:95699
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ... ORPHA:99889
Cushing Disease
Decreased eosinophil count, Increased urinary cortisol level, Leukocytosis, Adrenal hyperplasia, ... ORPHA:96253
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Tetraamelia Syndrome 1
Adrenal gland agenesis, Asplenia OMIM:273395
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Accessory spleen OMIM:236680
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Seizure ORPHA:79499
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro... ORPHA:97214
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, Congenital hypothyroidism ORPHA:79500
Alkaptonuria
Black pigment gallstones, Hypothyroidism, Hemolytic anemia, Methemoglobinemia ORPHA:56
Zimmermann-Laband Syndrome
Growth delay, Seizure ORPHA:3473
Zimmermann-Laband Syndrome 2
Short stature OMIM:616455
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
OMIM:124480

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 Atp6v1b2tm1b(KOMP)Wtsi 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 Atp6v1b2.

No publications found that use IMPC mice or data for Atp6v1b2.

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
Atp6v1b2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atp6v1b2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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