Gene Summary

Name:
trans-2,3-enoyl-CoA reductase
Synonyms:
2410016D23Rik,  SC2,  Gpsn2,  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
preweaning lethality, complete penetrance Tecrem1(IMPC)Rbrc HOM   Early adult 0.00
abnormal pancreas morphology Tecrem1(IMPC)Rbrc HET Late 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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

17 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

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
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
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
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... OMIM:601346
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology ORPHA:2978
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne... ORPHA:157798
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Melena OMIM:619182
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... OMIM:615710
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Pancreatic Agenesis 2
Pancreatic hypoplasia, Pancreatic aplasia, Steatorrhea, Exocrine pancreatic insufficiency OMIM:615935
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Exocrine pancreatic insufficiency, ... OMIM:167800
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly, Gastric varix OMIM:613490
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... ORPHA:234
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Perlman Syndrome
Abnormal pancreas morphology, High, narrow palate, Hepatomegaly, Cryptorchidism ORPHA:2849
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Esophage... ORPHA:64743
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Cryptorchidism ORPHA:281090
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... ORPHA:1876
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... OMIM:208540
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... ORPHA:2494
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... ORPHA:210122
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Esopha... ORPHA:44890
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Juvenile g... ORPHA:480536
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Bronchogenic Cyst
Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum, Dysphagia ORPHA:2357
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Feingold Syndrome
Abnormality of the spleen, Duodenal atresia, Esophageal atresia, Annular pancreas ORPHA:1305
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Bilateral cryptorchidism, High palate ORPHA:314575
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon... OMIM:174900
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Pancreatic fibrosis, Sialadenit... ORPHA:64744
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Jaundice, Xerostomia, Hep... ORPHA:779
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... ORPHA:220460
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Scleroderma
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:801
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:90291
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... ORPHA:2538
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... ORPHA:512
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Shwachman-Diamond Syndrome 2
High palate, Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogenic pancreas OMIM:617941
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... ORPHA:449432
Laron Syndrome
Hypercholesterolemia ORPHA:633
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Esophageal varix, Hematemesis, Hepatomeg... OMIM:263200
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Bohring-Opitz Syndrome
Gastroesophageal reflux, Narrow palate, Supernumerary nipple, Intestinal malrotation, Bilateral c... OMIM:605039
Aceruloplasminemia
Cirrhosis, Hepatic fibrosis, Abnormal pancreas morphology, Elevated hepatic iron concentration ORPHA:48818
Campomelia, Cumming Type
Pancreatic cysts, Abnormality of the pancreas, Abnormal intestine morphology, Hepatomegaly, Cleft... ORPHA:1318
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Aplasia/Hypoplasia of the pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogen... ORPHA:456312
Chronic Granulomatous Disease
Liver abscess, Malabsorption, Pyloric stenosis, Tracheoesophageal fistula, Hepatomegaly, Splenome... ORPHA:379
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Atelosteogenesis Type I
Cleft palate, Abnormal pancreatic duct morphology, Malrotation of colon ORPHA:1190
Hardikar Syndrome
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Hepatomegaly, Hematem... OMIM:301068
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Feingold Syndrome 1
Asplenia, High palate, Jejunal atresia, Gastrointestinal atresia, Esophageal atresia, Polysplenia... OMIM:164280
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Glycogen Storage Disease Ib
Splenomegaly, Hepatocellular carcinoma, Inflammation of the large intestine, Pancreatic fibrosis,... OMIM:232220
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... ORPHA:141127
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Steatorrhea, Pancreatic fibrosis, Hepatomegaly, Exocrine pancreat... OMIM:557000
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Jaundice, Pylor... ORPHA:93111
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Exocrine pan... OMIM:616263
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Jaundice, Polycystic liver disease, Bile duct proliferation, ... OMIM:208500
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Intestinal malrotation, Microglossia, Pancreatic fibrosis, Cleft palate, Hamart... OMIM:263520
Fryns Syndrome
Esophageal atresia, Aganglionic megacolon, Polysplenia, Anal atresia, Ectopic pancreatic tissue, ... OMIM:229850
Distal Monosomy 12Q
Biliary atresia, Esophageal atresia, Pyloric stenosis, Pituitary adenoma, Unilateral cryptorchidi... ORPHA:96149
Jacobsen Syndrome
Abnormality of the anus, Ectopic anus, Pyloric stenosis, Intestinal malrotation, Cryptorchidism, ... ORPHA:2308
Meckel Syndrome
Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Accessory sple... ORPHA:564
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Pearson Syndrome
Abnormality of the liver, Decreased response to growth hormone stimulation test, Macronodular cir... ORPHA:699
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Po... OMIM:267010
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Congenital shortened small intestine, Esophageal atresia, Anal atresia, Tracheoesophage... OMIM:265380
Jacobsen Syndrome
Annular pancreas, Pyloric stenosis, Cryptorchidism OMIM:147791
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Annular pancreas, Esophageal atresia, Cryptorchidism OMIM:227646
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Annular pancreas OMIM:618162
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Beckwith-Wiedemann Syndrome
Large intestinal polyposis, Macroglossia, Hepatoblastoma, Pseudohypoparathyroidism, Hepatomegaly,... ORPHA:116
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Trisomy 8P
Malrotation of small bowel, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Cryptorchidism, A... ORPHA:264450
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, High palate, Anteriorly placed anus, Cryptorchidism OMIM:268400
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, High palate, Cryptorchidism, Annular pancreas, Furrowed tongue, Duodenal... OMIM:616975
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Ankyloglossia, Annular pancreas ORPHA:488642
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
1P36 Deletion Syndrome
Gastroesophageal reflux, Abnormality of the liver, Abnormality of the anus, Pyloric stenosis, Hep... ORPHA:1606
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Hepatic hemangioma, Pheochromocytoma OMIM:193300
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... ORPHA:470
Bohring-Opitz Syndrome
Cleft palate, Cholelithiasis, Annular pancreas ORPHA:97297
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Schinzel-Giedion Syndrome
High palate, Aganglionic megacolon, Annular pancreas, Macroglossia, Hepatoblastoma, Anteriorly pl... ORPHA:798
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
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
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Viss Syndrome
Gastroesophageal reflux, High palate, Cleft soft palate, Bifid tongue, Bifid uvula, Macroglossia,... OMIM:619472
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... OMIM:309000
Williams Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Peptic ulcer, Colonic diverticula, M... ORPHA:904
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Intellectual Developmental Disorder, Autosomal Recessive 14
Narrow palate OMIM:614020

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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