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
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

Select physiological systems to view:
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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.

Gross Pathology and Tissue Collection

Images

17 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Gastric Cancer
Stomach cancer OMIM:613659
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
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
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Serrated Polyposis Syndrome
Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Bili... ORPHA:157798
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Intes... OMIM:615710
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Pancreatic Agenesis 2
Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Pancreatitis, Hereditary
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c... OMIM:167800
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... ORPHA:234
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Perlman Syndrome
High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Gastric varix, Perip... ORPHA:64743
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma ORPHA:281090
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Portal hypertension, Splenomegaly, Nodular regenerative hyperpla... OMIM:620367
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Tracheoesophageal fistula, Asplenia, Intestinal malrotat... ORPHA:210122
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... ORPHA:2357
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:260370
Feingold Syndrome
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia ORPHA:1305
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa morphology, D... ORPHA:779
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hypoplasia of the small intestine, Hypoplastic colon, Hepatic fibrosis, Pancreatic ... OMIM:200995
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe... ORPHA:2538
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Metachromatic Leukodystrophy
Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder... ORPHA:512
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Shwachman-Diamond Syndrome 2
Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, High palate, Exocrine pancreatic insufficiency OMIM:617941
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Laron Syndrome
Hypercholesterolemia ORPHA:633
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hypertension, Splenomega... OMIM:263200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Campomelia, Cumming Type
Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p... ORPHA:1318
Bohring-Opitz Syndrome
Narrow palate, Hyperechogenic pancreas, Gastroesophageal reflux, Bilateral cleft palate, Unilater... OMIM:605039
Atelosteogenesis Type I
Cleft palate, Abnormal pancreatic duct morphology, Malrotation of colon ORPHA:1190
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... OMIM:301068
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Feingold Syndrome 1
Annular pancreas, Gastrointestinal atresia, Esophageal atresia, Accessory spleen, High palate, Tr... OMIM:164280
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Spleno... OMIM:232220
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibros... OMIM:616263
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... ORPHA:93111
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Nephronophthisis 13
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:614377
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly ORPHA:379
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism OMIM:617052
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Pancreatic ... OMIM:557000
Fryns Syndrome
Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intestinal malrotat... OMIM:229850
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:616307
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Cleft palate, Microglossia, Hepatic fibrosis, Hamart... OMIM:263520
Distal Deletion 12Q
Annular pancreas, High, narrow palate, Esophageal atresia, Biliary atresia, Unilateral cryptorchi... ORPHA:96149
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Jacobsen Syndrome
Annular pancreas, Ectopic anus, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus... ORPHA:2308
Meckel Syndrome
Accessory spleen, Furrowed tongue, Asplenia, Cryptorchidism, Cleft palate, Congenital hepatic fib... ORPHA:564
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Steatorr... ORPHA:699
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Jaundice, Protein-losing enteropathy, Cholangitis, Periportal fibros... ORPHA:731
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Jacobsen Syndrome
Pyloric stenosis, Annular pancreas, Cryptorchidism OMIM:147791
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, ... OMIM:265380
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, High palate OMIM:618162
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula OMIM:227646
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Beckwith-Wiedemann Syndrome
Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Large intestinal polyposis,... ORPHA:116
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Trisomy 8P
Annular pancreas, Bifid uvula, Cleft palate, Malrotation of small bowel, Cryptorchidism, Aplasia/... ORPHA:264450
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
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
Annular pancreas, Gastroesophageal reflux, High palate, Furrowed tongue, Cryptorchidism, Duodenal... OMIM:616975
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, High palate, Anteriorly placed anus OMIM:268400
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Cleft palate, Ankyloglossia ORPHA:488642
1P36 Deletion Syndrome
Annular pancreas, Gastroesophageal reflux, Abnormal intestine morphology, Pyloric stenosis, Abnor... ORPHA:1606
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pheochromocytoma, Neoplasm of the pancreas, Pancreatic cysts OMIM:193300
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic atrophy, Pancreatic hypo... OMIM:137920
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Bohring-Opitz Syndrome
Annular pancreas, Cleft palate, Cholelithiasis ORPHA:97297
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Schinzel-Giedion Syndrome
Annular pancreas, Aganglionic megacolon, High palate, Dysphagia, Hepatoblastoma, Streak ovary, An... ORPHA:798
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia ORPHA:534
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Williams Syndrome
Peptic ulcer, Rectal prolapse, Cholelithiasis, Gastroesophageal reflux, Tracheoesophageal fistula... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
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.

Order Mouse and ES Cells

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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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