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Gene: Ap2a2 MGI:101920

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Gene Summary

Name:
adaptor-related protein complex 2, alpha 2 subunit
Synonyms:
alpha-adaptin C,  alpha-C adaptin,  2410074K14Rik,  L25,  Adtab

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 circulating HDL cholesterol level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating free fatty acids level Ap2a2tm1b(EUCOMM)Wtsi HET Early adult 1.14×10-07
decreased circulating fructosamine level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating cholesterol level Ap2a2em1(IMPC)Wtsi HET Early adult 1.43×10-06
increased circulating alkaline phosphatase level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating serum albumin level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
absent pinna reflex Ap2a2tm1b(EUCOMM)Wtsi HOM Early adult 1.26×10-09
increased circulating HDL cholesterol level Ap2a2em1(IMPC)Wtsi HET Early adult 6.40×10-05
increased circulating iron level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.06×10-06
increased circulating cholesterol level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
preweaning lethality, incomplete penetrance Ap2a2em1(IMPC)Wtsi HOM   Early adult 0.00
increased circulating LDL cholesterol level Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Ap2a2tm1b(EUCOMM)Wtsi HOM   Early adult 3.40×10-10
increased circulating LDL cholesterol level Ap2a2em1(IMPC)Wtsi HET Early adult 2.80×10-08

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

32 Images

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X-ray

XRay Images Skull Lateral Orientation

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

33 Images

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X-ray

XRay Images Forepaw

33 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

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Download thumbnail Download
DSS Histology

Images

12 Images

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Eye Morphology

Images Slit Lamp

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Ap2a2tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HET, Female, WTSI

View all 165 images

Ap2a2tm1b(EUCOMM)Wtsi
TS20 forebrain, TS20 oral cavity, TS20 mandibular process, TS20 ear, TS20 skin, TS20 brain, TS20 hindbrain, TS20 maxillary process, TS20 tongue, HET, Male, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 liver, HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 head, HET, Male, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 chorioallantoic placenta, HET, Female, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
TS20 stomach, HET, Female, WTSI
Ap2a2em1(IMPC)Wtsi
abnormal ventral coat pigmentation, abnormal coat/hair pigmentation, WT, Male, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Ap2a2tm1b(EUCOMM)Wtsi
corneal opacity, HET, Female, WTSI

Human diseases caused by Ap2a2 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 Ap2a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Elevated circulating cre... ORPHA:64753
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Dystonia, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased circulating ceruloplasmin conce... OMIM:616828
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:616050
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... OMIM:209950
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... ORPHA:507
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
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
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Acute ... ORPHA:247585
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anem... OMIM:613313
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Blepharospasm, Aceruloplasmin... OMIM:604290
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... ORPHA:540
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Hypoalbuminemia, T... ORPHA:292
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Action tremor, Hyperuricemia ORPHA:77296
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hypoalbuminemia, Lymphocyt... ORPHA:1667
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased HDL cholesterol con... OMIM:278000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatine kinase, Abnormal ... ORPHA:71212
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly, Hypercholesterolemia ORPHA:79237
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly OMIM:251880
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Laron Syndrome
Hypercholesterolemia ORPHA:633
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Amoebiasis Due To Entamoeba Histolytica
Anemia, Leukocytosis, Hypoalbuminemia ORPHA:67
Abetalipoproteinemia
Hypotriglyceridemia, Acanthocytosis, Decreased HDL cholesterol concentration, Anemia, Hyperbiliru... ORPHA:14
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Neutropenia, Anemia, Hypoalbuminemia, Thrombocytopenia OMIM:617303
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Hyperlipoproteinemia, Type V
Decreased LDL cholesterol concentration, Increased circulating chylomicron concentration, Increas... OMIM:144650
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Dystonia, Anemia, Hemolytic anemia, Hypoalbuminemia OMIM:619487
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Decreased plasma carnitine, Anemia, Hypoalbuminemia, ... ORPHA:89842
Avian Influenza
Leukopenia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine ... ORPHA:454836
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia OMIM:212050
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia OMIM:606069
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, Increased mean cor... ORPHA:90041
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Splenomegaly, Iron deficiency anemia, Hyperbilirubinemia... OMIM:616278
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Hypermanganesemia With Dystonia 1
Dystonia, Hypermanganesemia, Increased total iron binding capacity, Polycythemia, Unconjugated hy... OMIM:613280
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, H... ORPHA:79240
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia ORPHA:85443
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, H... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertrig... ORPHA:370
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased s... OMIM:222470
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased serum iron, Blepharospasm, Acer... ORPHA:48818
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Splenomegaly OMIM:602390
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia ORPHA:90065
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Hypotriglyceridemia, Hypoalbuminemia, Abnor... ORPHA:2298
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Leukopenia, Hepatosplenomegaly, Hypercholesterolemi... ORPHA:470
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... ORPHA:231222
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Anemia, Hypoalbuminemia, Thrombocytopenia ORPHA:505248
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Juvenile Polyposis Of Infancy
Anemia, Hypoalbuminemia, Refractory anemia ORPHA:79076
Galloway-Mowat Syndrome 1
Dystonia, Hypoalbuminemia OMIM:251300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Immunodeficiency 47
Leukopenia, Normocytic anemia, Accessory spleen, Hypercholesterolemia, Splenomegaly, Thrombocytop... OMIM:300972
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Xan... ORPHA:275761
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia ORPHA:90674
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Anemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Chronic neutropenia, Hyperuricemia, Xanthelasma, Anemia, Hy... ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Action tremor, Dystonia, Decreased circulating ferritin concentration, Splenomegaly... ORPHA:309854
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia ORPHA:171
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Abno... ORPHA:465508
African Iron Overload
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Elevated trans... ORPHA:139507
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... OMIM:309000
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Decreased hepcidin level, Elevated hepatic iron con... ORPHA:101330
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Anemia, Hyperaldosteronism, Hypop... ORPHA:534
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly, Hypoalbuminemia ORPHA:75565
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, A... ORPHA:447
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... ORPHA:330015
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Abnormality of iron homeostasis, Hypoplasia of the thymus, Lymphope... ORPHA:84064
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Pmm2-Cdg
Reduced thyroxin-binding globulin, Impaired neutrophil chemotaxis, 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 Ap2a2

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 Ap2a2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ap2a2tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Ap2a2em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ap2a2em2Wtsi Ap2a2tm1b(EUCOMM)Wtsi