Gene Summary

Name:
transformation/transcription domain-associated protein
Synonyms:
transactivation/transformation-domain associated protein

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
increased mean corpuscular volume Trraptm1a(EUCOMM)Wtsi HET Early adult 7.52×10-05
increased mean corpuscular hemoglobin Trraptm1a(EUCOMM)Wtsi HET Early adult 7.26×10-08
preweaning lethality, complete penetrance Trraptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal behavior Trraptm1a(EUCOMM)Wtsi HET Early adult 8.50×10-05
increased circulating magnesium level Trraptm1a(EUCOMM)Wtsi HET Early adult 4.43×10-06
abnormal cornea morphology Trraptm1a(EUCOMM)Wtsi HET Early adult 9.91×10-05

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 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 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 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
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 Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 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 50% (1 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
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.

Legacy Phenotype Associated Images

View all 170 images

Human diseases caused by Trrap mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Trrap by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay With Or Without Dysmorphic Facies And Autism
Umbilical hernia OMIM:618454
Deafness, Autosomal Dominant 75
OMIM:618778

The table below shows human diseases predicted to be associated to Trrap by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... OMIM:615234
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Hereditary Fructose Intolerance
Cataract, Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Anemia, E... ORPHA:300298
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Neutropenia, Increased mean corpuscular volume, Macrocytic ane... ORPHA:2169
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia OMIM:618314
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypermagnesemia, Hypomagnesemia ORPHA:358
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia ORPHA:261250
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Abnormality of iron ho... ORPHA:231222
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
East Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Hypocalcemia, Cataract, Splenomegaly, Corneal stro... ORPHA:699
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Astigmatism, Hypomagnesemia OMIM:248190
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Abnormal circulating biopterin concentration, Hypom... ORPHA:1578
Hypomagnesemia 3, Renal
Astigmatism, Hypomagnesemia, Hyperuricemia OMIM:248250
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:612780
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:263800
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Elevated circulating C-reactive prot... ORPHA:160
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein concentration,... ORPHA:97214
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Increased circulating renin level, ... OMIM:241200
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia, Hepatosplenomegaly, Hemolytic anemia OMIM:619503
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Abnormal cornea morphol... ORPHA:411634
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... ORPHA:330015
Developmental Delay With Or Without Dysmorphic Facies And Autism
Umbilical hernia OMIM:618454
Deafness, Autosomal Dominant 75
OMIM:618778

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 Trrap

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 Trrap.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Trraptm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Trraptm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Trraptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Trraptm39907(pL1L2_GT2_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Trraptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Trraptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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