Gene Summary

Name:
trans-2,3-enoyl-CoA reductase
Synonyms:
2410016D23Rik,  Gpsn2,  SC2,  D17Ertd178e,  A230102P12Rik

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 circulating LDL cholesterol level Tecrem1(IMPC)Rbrc HET Early adult 3.80×10-05
abnormal stomach morphology Tecrem1(IMPC)Rbrc HET Late adult 0.00
abnormal pancreas morphology Tecrem1(IMPC)Rbrc HET Late adult 0.00
preweaning lethality, complete penetrance Tecrem1(IMPC)Rbrc HOM   Early adult 0.00

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Human diseases caused by Tecr 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 Tecr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 14
Narrow palate OMIM:614020
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... ORPHA:157798
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Chole... OMIM:615710
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pancreatic c... OMIM:167800
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Gastric varix, Splenomegaly OMIM:613490
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormalit... ORPHA:234
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate ORPHA:2849
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology ORPHA:281090
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... OMIM:208540
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... ORPHA:210122
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Multiple gastric polyps, Stomach cancer, J... ORPHA:480536
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum ORPHA:2357
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Feingold Syndrome
Annular pancreas, Duodenal atresia, Esophageal atresia, Abnormality of the spleen ORPHA:1305
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Bilateral cryptorchidism, Pyloric stenosis ORPHA:314575
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts OMIM:211890
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Nodular goiter, Pancreatic fi... ORPHA:64744
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal... OMIM:300048
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Adenocarcinoma of ... ORPHA:220460
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatomegaly, Cirrhosis, Xerostomia,... ORPHA:779
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Esophageal varix, Portal hyperten... OMIM:263200
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Biliary tract abnormality,... OMIM:156810
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Hepatomegaly, Intestinal malrotation, Trach... ORPHA:2538
Harrod Syndrome
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Cryptorchidism, A... OMIM:601095
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Abnormal stomach morphology, Intussusception, Abnorma... ORPHA:512
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pol... OMIM:164280
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Igg4-Related Submandibular Gland Disease
Sialadenitis, Abnormal pancreas morphology, Xerostomia, Abnormal salivary gland morphology, Abnor... ORPHA:449432
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Shwachman-Diamond Syndrome 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancreas OMIM:617941
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Bohring-Opitz Syndrome
Narrow palate, Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Hyperechoge... OMIM:605039
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Campomelia, Cumming Type
Hepatomegaly, Cleft palate, Abnormality of the pancreas, Abnormal intestine morphology, Pancreati... ORPHA:1318
Chronic Granulomatous Disease
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Pyloric stenosis, Liver abs... ORPHA:379
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... OMIM:610199
Hardikar Syndrome
Hepatomegaly, Cholestasis, Esophageal varix, Prolonged neonatal jaundice, Bile duct proliferation... OMIM:301068
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Malrotation of colon, Cleft palate ORPHA:1190
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma... OMIM:232220
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Pearson Marrow-Pancreas Syndrome
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Pancreatic fibrosis,... OMIM:557000
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis OMIM:616263
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Aceruloplasminemia
Abnormal pancreas morphology, Elevated hepatic iron concentration ORPHA:48818
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Pylor... ORPHA:93111
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Intestinal malrotation, Pancreatic fibrosis, Hamartoma of tongue, Hepatic fibrosis,... OMIM:263520
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... OMIM:208500
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Annular pancreas OMIM:618162
Distal Monosomy 12Q
Annular pancreas, Duodenal atresia, Pituitary adenoma, High, narrow palate, Biliary atresia, Unil... ORPHA:96149
Jacobsen Syndrome
Ectopic anus, Annular pancreas, Duodenal atresia, Intestinal malrotation, Pyloric stenosis, Abnor... ORPHA:2308
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spleen, Congenital... ORPHA:564
Fryns Syndrome
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Ectopic pancreatic tissue, ... OMIM:229850
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, ... OMIM:267010
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth... ORPHA:699
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Abnorm... ORPHA:731
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... OMIM:265380
Jacobsen Syndrome
Pyloric stenosis, Annular pancreas, Cryptorchidism OMIM:147791
Fanconi Anemia, Complementation Group D2
Annular pancreas, Tracheoesophageal fistula, Cryptorchidism, Esophageal atresia OMIM:227646
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Ma... ORPHA:116
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Trisomy 8P
Annular pancreas, Cleft palate, Malrotation of small bowel, Bifid uvula, Aplasia/Hypoplasia of th... ORPHA:264450
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Rothmund-Thomson Syndrome, Type 2
High palate, Annular pancreas, Cryptorchidism, Anteriorly placed anus OMIM:268400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Annular pancreas, Duodenal atresia, Gastroesophageal reflux, Furrowed tongue, Crypto... OMIM:616975
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Cleft palate ORPHA:488642
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
1P36 Deletion Syndrome
Annular pancreas, Gastroesophageal reflux, Cryptorchidism, Abnormality of the spleen, Pyloric ste... ORPHA:1606
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cleft palate ORPHA:97297
Schinzel-Giedion Syndrome
High palate, Annular pancreas, Hepatoblastoma, Macroglossia, Streak ovary, Anteriorly placed anus... ORPHA:798
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Viss Syndrome
High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Intes... OMIM:619472
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism ORPHA:534
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Williams Syndrome
Cholelithiasis, Abnormal gastric mucosa morphology, Malabsorption, Gastroesophageal reflux, Macro... ORPHA:904
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Intellectual Developmental Disorder, Autosomal Recessive 14
Narrow palate OMIM:614020
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616

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 Tecr

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 Tecr.

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

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MGI Allele Allele Type Produced
Tecrtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Tecrem1(IMPC)Rbrc Exon Deletion Mice
Tecrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tecrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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