Gene Summary

Name:
trafficking protein particle complex 8
Synonyms:
D030074E01Rik,  Trs85,  5033403J15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal retina vasculature morphology Trappc8em1(IMPC)Tcp HET   Early adult 6.10×10-08
abnormal pancreas morphology Trappc8em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Trappc8em1(IMPC)Tcp HOM   Early adult 0.00
abnormal retina blood vessel morphology Trappc8em1(IMPC)Tcp HET Early adult 8.71×10-05
increased eosinophil cell number Trappc8em1(IMPC)Tcp HET Early adult 7.99×10-05
increased monocyte cell number Trappc8em1(IMPC)Tcp HET Early adult 8.33×10-05
increased circulating alanine transaminase level Trappc8em1(IMPC)Tcp HET Early adult 8.40×10-05

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Slit Lamp

96 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

101 Images

Gross Morphology Embryo E9.5

Images

4 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Trappc8 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 Trappc8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency 88
Eosinophilia OMIM:619630
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 32B
Hepatomegaly, Anemia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia... OMIM:226990
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Cinca Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Papilledema, Hepatos... OMIM:607115
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophil... OMIM:619644
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Wells Syndrome
Eosinophilia ORPHA:901
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Retinal dystrophy OMIM:616651
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Omenn Syndrome
Hepatomegaly, Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:603909
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Retinal dystrophy ORPHA:353298
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ... ORPHA:400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatic cysts, Hepatosplenomegaly, Eosinophilic liver infiltration OMIM:618999
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Exocrine pancr... OMIM:615952
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Omenn Syndrome
Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa... ORPHA:169160
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Abnormal pancreas mo... ORPHA:48818
Aspergillosis
Eosinophilia, Hepatitis, Vitritis, Neutropenia ORPHA:1163
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low... OMIM:602450
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat... OMIM:308300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Alveolar Echinococcosis
Jaundice, Liver abscess, Cholangitis, Anemia, Abnormal spleen morphology, Biliary cirrhosis, Port... ORPHA:284
Hereditary Chronic Pancreatitis
Jaundice, Elevated circulating C-reactive protein concentration, Leukocytosis, Pancreatic calcifi... ORPHA:676
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Monocytosis, Hypoplasia of the thym... OMIM:612541
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyperuricemia, Adrenocorticotropic horm... ORPHA:199299
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Igg4-Related Pachymeningitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Abnormal optic ne... ORPHA:449427
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, E... OMIM:243700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Leukopenia, Lymphopenia, ... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, Aplasia of... OMIM:102700
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Hepatitis ORPHA:139402
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Lymphopenia OMIM:617425
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop... ORPHA:3261
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Retinal detachment, Retinal vascular proliferation, Retinal he... ORPHA:464
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Tooth abscess, Thrombocytopenia, Peritonitis, Lymph... ORPHA:2686
Netherton Syndrome
Hypereosinophilia OMIM:256500
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Pancreatitis, Cholangitis, Elevated circulating C-reactive protein conc... ORPHA:449563
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dysplasia, Reti... OMIM:617052
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Cholangitis, Portal fibrosis, Anemia, Myeloproliferative disorder, Leukocytosis, Ch... ORPHA:3260
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia, Splenomegaly... OMIM:232220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proporti... ORPHA:508533
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Coccidioidomycosis
Pancreatitis, Granuloma, Abnormality of the spleen, Peritonitis, Abnormal retinal morphology, Abn... ORPHA:228123
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Retinal neovascularization, Retinal cotton wool spot, Abn... ORPHA:247691
Senior-Loken Syndrome 8
Retinal dystrophy, Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts, Rod-cone d... OMIM:616307
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Reduced C-peptide l... OMIM:260370
Igg4-Related Kidney Disease
Pancreatitis, Sclerosing cholangitis, Elevated circulating C-reactive protein concentration, Sial... ORPHA:449395
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Absent... OMIM:615710
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia, Pancreatic cysts OMIM:274000
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Lymphatic Filariasis
Hydrocele testis, Hypereosinophilia, Orchitis, Vaginal hydrocele ORPHA:2035
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulo... OMIM:557000
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Pancreatic fibrosis... ORPHA:699
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Thro... OMIM:617941
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology ORPHA:2470
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Retinal degeneration, Conjugated hyp... OMIM:208500
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Abnormal pituitary gland mo... ORPHA:64744
Sarcoidosis
Enlarged lacrimal glands, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Parotitis, ... ORPHA:797
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Retinal dysplasia ORPHA:1190
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess, Increased hepatic echogen... OMIM:147060
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple, Abnormal optic nerve morphology OMIM:605039
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy... OMIM:227646
Tropical Endomyocardial Fibrosis
Eosinophilia, Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:75565
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Retinal capillary hemangioma, Pol... OMIM:193300
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Thrombocytopenia, Chorioretinal coloboma, Cryptorchidism, Macula... OMIM:147791
Cushing Disease
Optic nerve compression, Decreased eosinophil count, Leukocytosis, Adrenal hyperplasia, Pituitary... ORPHA:96253
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Adrenal pheochromocytoma, Retinal detachment, Pancreatic islet cell ade... ORPHA:892
Meckel Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Accessory spleen, Asplenia, Cryptorchidism, Con... ORPHA:564
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla... OMIM:610199
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hepatomegaly OMIM:200995
Beckwith-Wiedemann Syndrome
Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Choroideremia, Polycythemia... ORPHA:116
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Viss Syndrome
Retinal detachment, Hypereosinophilia OMIM:619472
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Retinal atrophy, Cholelithiasis ORPHA:97297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s... OMIM:616263
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pan... OMIM:137920
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatic fibr... OMIM:263200
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Rod-cone dystrophy ORPHA:488642
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis, Retinal dystrophy OMIM:263520
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Pancreatic hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hyper... ORPHA:93111
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Hypoamylasemia, Pancreatic aplasia, Reduced C-peptide level ORPHA:556955
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Increased serum bile acid concentration, Periportal fibrosis, Cholestasis,... ORPHA:731
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Cryptorchidism OMIM:616975
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pheochromocytoma, Lymphopenia, Leukocytosis, Adrenal hyperplasia, Decr... ORPHA:99889
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Jacobsen Syndrome
Bone marrow hypocellularity, Annular pancreas, Cryptorchidism, Thrombocytopenia ORPHA:2308
1P36 Deletion Syndrome
Optic atrophy, Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Cryptorchid... ORPHA:1606
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Distal Deletion 12Q
Annular pancreas, Pituitary adenoma, Biliary atresia, Unilateral cryptorchidism ORPHA:96149
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism OMIM:268400
Fryns Syndrome
Ectopic pancreatic tissue, Cryptorchidism, Polysplenia OMIM:229850
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration ORPHA:221
Schinzel-Giedion Syndrome
Hepatoblastoma, Annular pancreas, Streak ovary, Myeloid leukemia ORPHA:798
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Asplenia OMIM:265380

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 Trappc8

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 Trappc8.

No publications found that use IMPC mice or data for Trappc8.

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MGI Allele Allele Type Produced
Trappc8em1(IMPC)Tcp Exon Deletion Mice

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