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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
preweaning lethality, complete penetrance Atp6v1b2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 1.55×10-05
embryonic lethality prior to organogenesis Atp6v1b2tm1b(KOMP)Wtsi HOM   E9.5 0.00
decreased mean corpuscular volume Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 5.33×10-05
small adrenal glands Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 0.00
small lymph nodes Atp6v1b2tm1b(KOMP)Wtsi HET 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 3.39×10-10
decreased mean corpuscular hemoglobin Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 5.76×10-15
decreased mean corpuscular hemoglobin concentration Atp6v1b2tm1b(KOMP)Wtsi HET Early adult 3.38×10-07

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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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Embryo LacZ

LacZ images wholemount

86 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Gross Pathology and Tissue Collection

Images

8 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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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Eye Morphology

Images Ophthalmoscopy

1 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
Doors Syndrome
Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Seizure ORPHA:79499
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
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy... OMIM:603552
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Microcytic anemia OMIM:618852
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Reduced C-peptide level, Diabetic ketoacidosis, Elevated hemoglobin A1c OMIM:618858
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell ... ORPHA:276
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... ORPHA:231222
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Diabetes Mellitus, Transient Neonatal, 3
Reduced C-peptide level, Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes ... OMIM:610582
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Elevated hemoglobin A1c OMIM:606176
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Abnormality of the lymphatic... ORPHA:54251
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Agammaglobulinemia, X-Linked
T lymphocytopenia, Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnormal lymph node... OMIM:612840
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c... OMIM:250790
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... ORPHA:96181
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease... ORPHA:231580
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Microcytic anemia ORPHA:98791
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... ORPHA:369929
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids OMIM:619769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Diabetes insipidus ORPHA:423479
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... OMIM:201810
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... ORPHA:90790
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Neoplasm of th... ORPHA:99867
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Abnormal hemoglobin, Anemia ORPHA:847
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Doors Syndrome
Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Seizure ORPHA:79499
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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