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Gene: Tmem45a MGI:1913122

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Gene Summary

Name:
transmembrane protein 45a
Synonyms:
C630002M10Rik

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
small spleen Tmem45aem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Tmem45aem1(IMPC)Mbp HOM Early adult 0.00
decreased grip strength Tmem45aem1(IMPC)Mbp HOM Early adult 2.95×10-14
small testis Tmem45aem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Tmem45aem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Tmem45aem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

70 Images

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Human diseases caused by Tmem45a 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 Tmem45a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete... OMIM:271500
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Wolman Disease
Hepatomegaly, Splenomegaly, Adrenal calcification OMIM:620151
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hyp... OMIM:602390
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Impo... OMIM:235200
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Hypogonadism OMIM:608540
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly ORPHA:1046
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st... OMIM:612526
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Mirage Syndrome
Anemia, Hypospadias, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased testicular siz... OMIM:617053
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Ascites, Asplenia OMIM:602361
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Testic... ORPHA:465508
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcification, Adren... ORPHA:75233
Beta-Thalassemia Intermedia
Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean corpuscular volume, A... ORPHA:231222
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Joubert Syndrome 33
Splenomegaly OMIM:617767
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat... ORPHA:158057
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, D... ORPHA:79083
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis OMIM:605309
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Hepatosplenomegaly, Splenome... OMIM:606003
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,... OMIM:222300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum testosterone... OMIM:201100
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,... ORPHA:39041
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hepatospl... ORPHA:1655
Gaucher Disease Type 1
Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obs... ORPHA:77259
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... OMIM:601186
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Gray Platelet Syndrome
Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Spherocytosis, Abnormality of the hypothalamus-pituitary axis, ... ORPHA:251066
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo... OMIM:153670
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ... ORPHA:699
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi... OMIM:611881
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Pancr... OMIM:610199
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy OMIM:300322
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in female... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in females, Hyperinsulinemia, ... OMIM:608594
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnormality of thyroid p... ORPHA:273

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 Tmem45a

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 Tmem45a.

No publications found that use IMPC mice or data for Tmem45a.

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MGI Allele Allele Type Produced
Tmem45atm380408(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmem45aem1(IMPC)Mbp Exon Deletion Mice, Tissue

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