banner
Genes Phenotypes Help, News, Blog

Gene: Enc1 MGI:109610

Log in to follow

Gene Summary

Name:
ectodermal-neural cortex 1
Synonyms:
Nrpb,  PIG10

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased circulating HDL cholesterol level Enc1tm1a(EUCOMM)Wtsi HOM Early adult 1.51×10-05
decreased circulating glucose level Enc1tm1a(EUCOMM)Wtsi HOM Early adult 9.43×10-07
decreased blood urea nitrogen level Enc1tm1a(EUCOMM)Wtsi HOM   Early adult 3.87×10-06
decreased circulating cholesterol level Enc1tm1a(EUCOMM)Wtsi HOM Early adult 3.63×10-06
increased circulating bilirubin level Enc1tm1a(EUCOMM)Wtsi HOM Early adult 1.14×10-07
increased circulating alkaline phosphatase level Enc1tm1a(EUCOMM)Wtsi HOM Early adult 9.26×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Skull Dorso Ventral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images
DSS Histology

Images

8 Images

View images
Anti-nuclear antibody assay

Images

6 Images

View images
X-ray

XRay Images Skull Lateral Orientation

13 Images

View images
Eye Morphology

Images Slit Lamp

6 Images

View images
Eye Morphology

Images Ophthalmoscopy

2 Images

View images
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 68 images

Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
decreased anterior commissure size, anterior commissure, HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Enc1tm1a(EUCOMM)Wtsi
lateral ventricle, enlarged lateral ventricles, HOM, Male, WTSI

View all 9 images

Enc1tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Enc1tm1a(EUCOMM)Wtsi
abnormal pupil morphology, abnormal placement of pupils, HOM, Female, WTSI
Enc1tm1a(EUCOMM)Wtsi
narrow eye opening, HOM, Female, WTSI
Enc1tm1a(EUCOMM)Wtsi
iris synechia, HOM, Female, WTSI
Enc1tm1a(EUCOMM)Wtsi
fused cornea and lens, HOM, Female, WTSI

View all 8 images

Enc1tm1a(EUCOMM)Wtsi
asymmetric snout, head, HOM, Female, WTSI
Enc1tm1a(EUCOMM)Wtsi
asymmetric snout, head, HOM, Female, WTSI
Enc1tm1a(EUCOMM)Wtsi
asymmetric snout, head, HOM, Female, WTSI

Human diseases caused by Enc1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Enc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... OMIM:615160
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hypoglycemic seizures, Hyperbilirubinemia OMIM:609734
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... OMIM:617049
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel... OMIM:616860
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... ORPHA:293964
Diarrhea 13
Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... OMIM:617156
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... OMIM:227810
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia OMIM:619075
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... ORPHA:348
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea nitrogen OMIM:617872
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... ORPHA:1667
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia, Hypogl... OMIM:251880
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia OMIM:617093
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... OMIM:608836
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Glycosuria OMIM:613404
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Glycogen Storage Disease Ixb
Hypoglycemia, Hyperuricemia OMIM:261750
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea OMIM:613812
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... OMIM:619355
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Fructose Intolerance, Hereditary
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria OMIM:229600
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia OMIM:614736
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Hyperbilirubinemia, Steatorrhea OMIM:557000
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria OMIM:616026
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul... OMIM:614866
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Xanthelasma ORPHA:30391
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:620305
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,... ORPHA:447
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia OMIM:613658
Ogden Syndrome
Hyperbilirubinemia, Maternal diabetes OMIM:300855
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia OMIM:620186
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Diabetes mellitus, Hypocalcemia, Increased VLDL cholesterol concen... OMIM:243800

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 Enc1

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 Enc1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Enc1tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Enc1tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Enc1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Enc1tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Enc1tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Enc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter