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Gene: Cyth3 MGI:1335107

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cytohesin 3
Synonyms:
Grp1,  cytohesin 3,  Pscd3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cyth3 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 Cyth3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes... ORPHA:79085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity OMIM:617885
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Short Stature Due To Ghsr Deficiency
Vomiting, Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... OMIM:620357
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli... ORPHA:528
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... ORPHA:79083
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... ORPHA:2348
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... OMIM:615160
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... ORPHA:369
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... ORPHA:280365
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Vom... OMIM:617872
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue ORPHA:199276
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Failure to thrive OMIM:606528
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomiting, Eleva... OMIM:278000
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... OMIM:214150
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... ORPHA:2394
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen... OMIM:269880
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Vomit... ORPHA:289504
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Small for gest... ORPHA:79237
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... ORPHA:73272
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Chronic constipation, Hype... OMIM:620211
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Increased body weight, Increased proinsul... ORPHA:94086
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... ORPHA:79301
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Constipation, Propionyl-CoA carboxylase deficiency ORPHA:35
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi... ORPHA:264580
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Aromatase Deficiency
Eunuchoid habitus, Insulin resistance, Hyperlipidemia, Obesity, Type II diabetes mellitus, Hepati... ORPHA:91
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... ORPHA:79644
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Hepatic steatosis ORPHA:96168
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat... ORPHA:65682
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia, Gast... ORPHA:813
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen con... OMIM:261750
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Cachexia, Splenomegaly, Insulin resistan... ORPHA:3452
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Werner Syndrome
Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Slender build, Chondro... ORPHA:902
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Dia... ORPHA:71
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Hypokale... ORPHA:508
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... OMIM:251880
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Vom... OMIM:616483
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... OMIM:616541
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Vomiting, Hyp... OMIM:615453
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Elevated circulating creatinine con... ORPHA:230
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Reactive hypoglycemia, Diarrhea, Obesity, Hypoinsulinemia OMIM:600955
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Impaired glucose tolerance, Elevated circulating creatine kinase c... OMIM:610131
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... ORPHA:30391
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive OMIM:614736
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati... ORPHA:99901
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Diarrhea, Hypermagnesemia, Gluco... ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... OMIM:617591
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Insulin resistance, Vomiting, Gastroesophageal reflux, Fasting hypogly... ORPHA:96182
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, He... OMIM:248370
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity ORPHA:66628
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... OMIM:256810
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Bardet-Biedl Syndrome 1
Diabetes mellitus, Insulin resistance, Biliary tract abnormality, Obesity, Truncal obesity, Abdom... OMIM:209900
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity ORPHA:179494
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Acute hepatic steatosis, Vomiting, Failure to thrive OMIM:210200
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:608594
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... OMIM:618329
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Vomiting, Hepatic steatosis OMIM:201450
Tyrosinemia, Type I
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... OMIM:276700
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:269700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... OMIM:232200
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Vomiting, Hyponatremia, Hepatosplenomegaly, E... ORPHA:275761
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... OMIM:229600
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Vomiting, Hyperleucinemia, Propionyl-CoA carb... OMIM:210210
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Vomitin... ORPHA:90790
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Hyp... OMIM:232220
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Oral-pharyngeal dysphagia, Insulin resistance, ... ORPHA:273
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Diarrhea, Insulinoma, Increased circu... OMIM:131100
Alström Syndrome
Hepatic fibrosis, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Hepatic stea... ORPHA:64
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflam... OMIM:232240
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Insulin resistance, Absence of subcutaneous fat, Weight loss ORPHA:740
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Reduced thyroxin-bindi... ORPHA:79318

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 Cyth3

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 Cyth3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cytohesin-3 is required for full insulin receptor signaling and controls body weight via lipid excretion. Scientific reports (March 2019) Cyth3tm2a(KOMP)Wtsi PMC6401384

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cyth3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cyth3tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cyth3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cyth3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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