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Gene: Neurog3 MGI:893591

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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:
neurogenin 3
Synonyms:
ngn3,  Math4B,  Atoh5,  bHLHa7

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 Neurog3 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 Neurog3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Dehydration, Cholestatic liver disease, Type I diabetes mellitus ORPHA:83620
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370

The table below shows human diseases predicted to be associated to Neurog3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
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 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia, Dehydration OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glucose/Galactose Malabsorption
Malabsorption, Hypertonic dehydration, Glycosuria, Failure to thrive, Abnormal oral glucose toler... OMIM:606824
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... ORPHA:552
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Dehydration, Renal tubular dysfunction, E... ORPHA:69076
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Re... ORPHA:263455
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Failure to thrive... ORPHA:2088
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Failure to thrive, Dehydration ORPHA:28
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestatio... OMIM:616026
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Edema, Cryptorchidism, Chronic kidney ... ORPHA:97362
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Dehydration, Cholestatic liver disease, Type I diabetes mellitus ORPHA:83620
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephrocalcinosis, Renal tubular acidos... OMIM:613404
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia, Dehydration ORPHA:79159
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Abnor... ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia, Cryptorchidism, Dehydration, Failure to thrive OMIM:618958
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria, Dehydration, Failure to thrive ORPHA:289504
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Malabsorption, Intrahepatic cholestasis,... OMIM:227810
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Weig... OMIM:143880
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Failure to thrive, Pancreatitis ORPHA:79312
Cataract 47
Glycosuria OMIM:612018
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, ... OMIM:251000
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia... OMIM:137920
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dehydration, Recurrent hyp... OMIM:212140
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Dehydration, Renal tubular ... ORPHA:213
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Ketonuria, Methylmalonic aciduria, Dehydration OMIM:251120
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Propionic Acidemia
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Dehydrati... OMIM:606054
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Gastric varix, Hepatocellular carcinoma OMIM:613490
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Failure to t... OMIM:560000
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thrive OMIM:602722
Reticular Dysgenesis
Malabsorption, Failure to thrive, Dehydration, Weight loss ORPHA:33355
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Malabsorption, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nep... ORPHA:47159
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Hepatic melanin-like lysosomal pigmentation, Jau... OMIM:208085
Central Diabetes Insipidus
Failure to thrive, Weight loss, Nocturia, Dehydration ORPHA:178029
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Malabsorption, Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, Failure to ... OMIM:616539
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Cystinosis, Nephropathic
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hepatomegal... OMIM:219800
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Pancreatitis, Dehydration ORPHA:27
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... ORPHA:699
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Hyp... OMIM:557000
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia,... OMIM:229600
Wolcott-Rallison Syndrome
Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundice, Chroni... ORPHA:1667
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Wilson Disease
Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Atypical ... OMIM:277900
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Congenital Short Bowel Syndrome
Intestinal malrotation, Dehydration, Steatorrhea, Congenital shortened small intestine, Failure t... OMIM:615237
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Dehydration, Renal tubular dysfunction... ORPHA:411629
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Insulin resistance, Dehydration, Failure to thrive OMIM:214150
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Grade ... OMIM:619377
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hypoglycemia, Dehydration, Hyperglycemia, Failure to thrive OMIM:615453
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Dehydration, Weight ... ORPHA:92050
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration, Renal salt wasting OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Dehydration, Renal salt wasting OMIM:610600
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Edema, Dehydration, Weight loss, Hyperglycemia ORPHA:134
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Failure to thrive ORPHA:35710
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Dehydration, Renal salt wasting OMIM:264350
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Failure to thrive, Intestinal malrot... OMIM:600001
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Long penis, Hyperin... OMIM:262190
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Autosomal Agammaglobulinemia
Malabsorption, Hepatitis, Dehydration, High palate, Failure to thrive ORPHA:33110
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, De... OMIM:251100
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Dehydration, Failure to thrive OMIM:251110
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Jaundice, Lipid accu... ORPHA:20
Adrenal Hypoplasia, Congenital
Cryptorchidism, Failure to thrive, Dehydration, Renal salt wasting OMIM:300200
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Dehydration, Weight loss ORPHA:171876
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia OMIM:608600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Cryptorchidism, Dehydration, Adrenocort... ORPHA:90791
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97282
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology ORPHA:281090
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Polyuria, Polyhydramnios, Renal... OMIM:601678
Isovaleric Acidemia
Hyperglycinuria, Dehydration OMIM:243500
Myasthenia Gravis
Hepatitis, Glycosuria ORPHA:589
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hypercalciuria, Hepatosp... OMIM:219700
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Failure to thrive, Dehydration ORPHA:556030
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Increased body weight, Abdominal obesity, Macronodular adrenal ... OMIM:615954
Microvillus Inclusion Disease
Villous atrophy, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abno... ORPHA:2290
Shigellosis
Hypoglycemia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Intestinal perforation, Pe... ORPHA:810
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... OMIM:604367
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration, 3-Methylglutaconic aciduria, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Edema, Glycosuria, Hyperglycemia, Acute kidney injury, Pulmonary e... ORPHA:466677
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Netherton Syndrome
Malabsorption, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis ORPHA:634
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea OMIM:615935
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Dehydration, Hemo... ORPHA:90038
Donohue Syndrome
Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe failure to thrive, Hepatic fibros... OMIM:246200
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Bartter Syndrome Type 4
Failure to thrive, Small for gestational age, Polyhydramnios, Renal salt wasting, Increased urina... ORPHA:89938
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Renal salt wasting, Hypersplenism, Microvesicular hepatic steatosis,... ORPHA:275761
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Dehydration,... ORPHA:230
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Renal salt wasting, Elevated circulating luteinizing hormone level, Crypto... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Renal salt wasting, Elevated circulating luteinizing hormone level, Crypto... ORPHA:289548
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration OMIM:177735
Familial Cold Urticaria
Dehydration ORPHA:47045
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Jaundice... ORPHA:79282
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali... ORPHA:223
Dend Syndrome
Hyperglycemia, Dehydration ORPHA:79134
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Megacystis, Polyuria, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Megacystis, Polyuria, Hypertonic dehydration OMIM:304800
Familial Adenomatous Polyposis 4
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Atypical Werner Syndrome
Renal neoplasm, Decreased body weight, Diabetes mellitus, Failure to thrive, Insulin-resistant di... ORPHA:79474
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci... ORPHA:139507
Lamellar Ichthyosis
Renal insufficiency, Dehydration ORPHA:313
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Microsporidiosis
Glossitis, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Lacticaciduria, Dehydration, Hyperglycemia, Failure to thrive ORPHA:3008
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancrea... OMIM:609069
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Jaundice, Chronic kidney disease, Hemoglobinur... ORPHA:447
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Polyhydramnios, Renal salt wasting, Increa... OMIM:241200
Necrotizing Enterocolitis
Small for gestational age, Edema, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia, Ascites ORPHA:391673
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Cholera
Abnormality of renal excretion, Hypoglycemia, Dehydration, Acute kidney injury, Decreased urine o... ORPHA:173
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Pheochrom... ORPHA:652
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis OMIM:618108
Harlequin Ichthyosis
Dehydration ORPHA:457
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Polyhydramnios, Dehydration OMIM:214700
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cryptorchidism, Dehydration, Macroglo... ORPHA:96191
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Malabsorption, Cryptorchid... ORPHA:534
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Weight lo... ORPHA:465508
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Angioedema, Failure to thrive, Intestinal atresia OMIM:256500
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Renal salt wasting, Long penis, Testicular adrenal rest tumor, Dehydration... ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity OMIM:619737
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... ORPHA:512
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... OMIM:269880
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Dehydration, Myoglobinuria, Acute kidney injury ORPHA:94093
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the splee... ORPHA:2538
Colchicine Poisoning
Renal insufficiency, Oliguria, Dehydration ORPHA:31824
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Stea... ORPHA:440713
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Marburg Hemorrhagic Fever
Renal insufficiency, Hypoglycemia, Orchitis, Jaundice, Dehydration, Pancreatitis ORPHA:99826
Wolfram Syndrome
Gastrointestinal hemorrhage, Abnormal mesentery morphology, Gastric ulcer, Malabsorption ORPHA:3463
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis ORPHA:2575
Alternating Hemiplegia Of Childhood
Failure to thrive, Dehydration ORPHA:2131
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis, Tubuloi... OMIM:124000
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Glucose in... OMIM:608612
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ... ORPHA:93111
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Long ... ORPHA:769
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia ORPHA:90065
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria,... ORPHA:508
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Splenomegaly, Xerostomia, Gastroesophageal ... ORPHA:809
Williams Syndrome
Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Rectal prol... ORPHA:904
Cole Disease
Hyperglycemia OMIM:615522
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Abnormality of the liver, Colitis, Hypopl... ORPHA:84064
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Gastric ulcer, Hep... ORPHA:2072
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Peritonitis, Enterocolitis, Hepatitis, Hemat... ORPHA:73263
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid d... OMIM:220111
Aceruloplasminemia
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration ORPHA:48818
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Gl... ORPHA:444077
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... ORPHA:449432
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Celiac disease, Adrenocorticotropic hormon... ORPHA:293987
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Postprandial hyperglycemia ORPHA:79102
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Cryptorchidism, Cleft palate, Gastric ulcer, High palate,... OMIM:135900
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis... ORPHA:116

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 Neurog3

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 Neurog3.

No publications found that use IMPC mice or data for Neurog3.

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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
Neurog3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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