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Gene: Arfgef3 MGI:106387

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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:
ARFGEF family member 3
Synonyms:
D10Bwg1379e,  B930094H20Rik,  BIG3

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 Arfgef3 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 Arfgef3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Cortisone Reductase Deficiency 2
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio... OMIM:614662
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h... ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes m... OMIM:612526
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:616033
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... ORPHA:2298
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Hepatic steatosis OMIM:615980
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increa... ORPHA:263455
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly ORPHA:363400
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycys... ORPHA:79083
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Hepatic steatosis, Cryptorchidism, Hepatomegaly, Diabetes ... OMIM:615381
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Hypergonadotropic hypogonadism ORPHA:79237
Placental Insufficiency
Insulin resistance ORPHA:439167
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Polycysti... ORPHA:528
Cole Disease
Hyperglycemia OMIM:615522
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol... ORPHA:79086
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... ORPHA:2088
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hepatomega... ORPHA:2348
Mpi-Cdg
Hepatic fibrosis, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatomegaly ORPHA:79319
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Pancreatic aplasia OMIM:609069
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Ovar... OMIM:269880
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly ORPHA:75563
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R... ORPHA:99885
Bangstad Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cryptorchidism OMIM:214150
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism ORPHA:73272
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Dend Syndrome
Hyperglycemia ORPHA:79134
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension ORPHA:440713
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hyperins... ORPHA:71212
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatomegaly, Impaired gluc... OMIM:248370
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia OMIM:602579
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Decreased t... ORPHA:813
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Hepatic steatosis, Splenomegaly, Polycystic ovar... ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:613327
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Po... OMIM:608594
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus, Cryptorchidism, Hepatic steatosis, Enlarged polycy... ORPHA:91
Werner Syndrome
Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Aplasia/Hypoplasi... ORPHA:902
Monosomy 13Q34
Insulin resistance, Hepatic steatosis ORPHA:96168
Whipple Disease
Insulin resistance, Hepatomegaly, Hypothyroidism, Splenomegaly ORPHA:3452
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Fasting hypoglycemia, Hepatomegaly OMIM:227810
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Diabetes mellitus, Cryptorchidism OMIM:616541
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomeg... OMIM:269700
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Decreased response to growth hormon... ORPHA:96182
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the... OMIM:209900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Breast aplasia ORPHA:90153
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Biliary atresia, Diabetes m... OMIM:600001
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic st... OMIM:124000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Delayed puberty ORPHA:90154
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Hyperhidrosis, Hyperthyroidism, Thyrotoxicosis with d... ORPHA:79102
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Graves disease, Glucose intolerance, Type II diabet... ORPHA:358
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Scorpion Envenomation
Hyperglycemia, Hyperhidrosis, Acute pancreatitis, Glycosuria ORPHA:466677
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hyperglycemia, Hypothyroidism ORPHA:444077
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Male hypogonadism, Decreased response to growth hormone stimu... ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Recurrent pancreatitis, Impair... OMIM:606721
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Impaired fasting g... ORPHA:110
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hyperin... ORPHA:99226
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insu... OMIM:137920
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Portal inflammation, Pancreatic hypoplasia, Exocrine pancreatic insuffi... OMIM:619991
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Pubertal developmental failure in females, Female hypogonad... ORPHA:740
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... ORPHA:64
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:79318
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968

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 Arfgef3

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 Arfgef3.

No publications found that use IMPC mice or data for Arfgef3.

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
Arfgef3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Arfgef3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arfgef3em1(IMPC)Hmgu Intra-exon deletion Mice

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