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Gene: Maea MGI:1891748

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Gene Summary

Name:
macrophage erythroblast attacher
Synonyms:
1110030D19Rik,  Gid9

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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
preweaning lethality, complete penetrance Maeatm1b(EUCOMM)Wtsi HOM   Early adult 7.53×10-05
abnormal coat appearance Maeatm1b(EUCOMM)Wtsi HET Early adult 3.08×10-05

Download data as:  TSV  XLS

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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 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 100% (1 of 1)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 100% (2 of 2)
Colon N/A heterozygote 100% (1 of 1)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 100% (1 of 1)
Submandibular gland N/A heterozygote 100% (1 of 1)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 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.

Electrocardiogram (ECG)

Waveform Image

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Maea 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 Maea by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Acute Myelomonocytic Leukemia
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor ORPHA:228312
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... OMIM:300751
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, Anisocytosis, Anemia of i... OMIM:615631
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Pallor ORPHA:75563
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia, Pallor OMIM:611804
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hypochromia, Splenomegaly OMIM:615234
Pyruvate Kinase Deficiency Of Red Cells
Erythroid hyperplasia, Reticulocytosis, Pallor, Decreased hemoglobin concentration, Chronic hemol... OMIM:266200
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Miscarriage, Drug-sensitive hemolytic anemi... ORPHA:2133
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Pancytopenia, Pallor, Thrombocyto... ORPHA:507
Beta-Thalassemia
Anemia, Skin ulcer, Pallor, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:848
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pallor, Anisoc... OMIM:300908
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... ORPHA:1959
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Primary Myelofibrosis
Anemia, Petechiae, Purpura, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Pallor, Ecchymosis,... ORPHA:824
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Pallor, Increased mean cor... ORPHA:98870
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepatosplenomegaly OMIM:611590
Myelofibrosis
Pallor, Purpura, Splenomegaly, Myeloproliferative disorder OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia, Pallor ORPHA:49827
Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor ORPHA:98375
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Pallor OMIM:613561
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor OMIM:616959
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce... OMIM:194380
Letterer-Siwe Disease
Anemia, Pallor, Hepatosplenomegaly, Thrombocytopenia, Neutropenia OMIM:246400
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Pallor, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... ORPHA:300298
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor ORPHA:56425
Optic Atrophy 1
Pallor OMIM:165500
Retinitis Pigmentosa 27
Pallor OMIM:613750
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Pallor ORPHA:90037
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Skin u... ORPHA:822
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, A... ORPHA:3226
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Pallor, Hypochromic anemia, Mic... OMIM:600462
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Skin ulcer, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of ... ORPHA:231222
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Pallor, Eosinophilia, Thrombocytopenia ORPHA:90045
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Death in childhood, Pallor OMIM:246450
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Pallor ORPHA:90033
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Pallor ORPHA:54028
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Anemic pallor, Thrombocyt... ORPHA:86839
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Skin ulcer, Decreased mean corpuscular hemoglobin concentrat... ORPHA:231226
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, P... OMIM:557000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Pallor, Hepatosplenomegaly ORPHA:99931
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Retinitis Pigmentosa 51
Pallor OMIM:613464
Fanconi Anemia, Complementation Group I
Neutropenia, Intrauterine growth retardation, Pallor OMIM:609053
Sepsis In Premature Infants
Anemia, Petechiae, Purpura, Pallor, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:90051
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Anemia ORPHA:329971
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Irida Syndrome
Pallor ORPHA:209981
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Pancytopenia, Anemic pallor, Thrombocytopenia, Neutropenia, Leukemia OMIM:600901
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Purpura, Abnormality of neutrophils, Pallor, Splenomegaly ORPHA:33226
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Anemic pallor, Thrombocytopenia, Neutropenia, Leukemia OMIM:227650
Fumarase Deficiency
Polycythemia, Pallor OMIM:606812
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Pancytopenia, Intrauterine growth retardation, Anemic pallor, Thromboc... OMIM:227645
American Trypanosomiasis
Splenomegaly, Pallor ORPHA:3386
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Dravet Syndrome
Pallor ORPHA:33069
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Retinitis Pigmentosa 75
Pallor OMIM:617023
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Pallor, Thrombocytosis, Leukocytosis ORPHA:20
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Pallor ORPHA:134
Diamond-Blackfan Anemia 1
Reticulocytopenia, Pallor, Thrombocytosis, Intrauterine growth retardation, Thrombocytopenia, Neu... OMIM:105650
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Rheumatic Fever
Erythema, Pallor ORPHA:3099
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Tay-Sachs Disease
Pallor OMIM:272800
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Pallor ORPHA:91349
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Pallor, Thrombocytosis, Eosinophilia, Myeloproliferativ... ORPHA:3260
Sheehan Syndrome
Dry skin, Normochromic anemia, Pallor ORPHA:91355
Senior-Loken Syndrome 8
Pallor OMIM:616307
Incontinentia Pigmenti
Erythema, Leukocytosis, Eosinophilia, Pallor OMIM:308300
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Pancytopenia, Anemic pallor, Thrombocytopenia, Neutropenia, Leukemia OMIM:227646
Childhood Absence Epilepsy
Pallor ORPHA:64280
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Rare Circulatory System Disease
Pallor ORPHA:98028
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Pallor, Leukocytosis, Thrombocytopenia ORPHA:544482
Degcags Syndrome
Leukopenia, Anemia, Abnormal spleen morphology, Pancytopenia, Hepatosplenomegaly, Pallor, Iron de... OMIM:619488
Autosomal Recessive Malignant Osteopetrosis
Anemia, Splenomegaly, Pallor ORPHA:667
Prolactinoma
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Von Hippel-Lindau Disease
Polycythemia, Pallor ORPHA:892
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Esophageal Atresia
Pallor ORPHA:1199
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Goodpasture Syndrome
Anemia, Pallor OMIM:233450
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 Maea

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 Maea.

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

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MGI Allele Allele Type Produced
Maeatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Maeatm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Maeatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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