Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gastrin
Synonyms:
GAS

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Gast 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 Gast by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Gastric Cancer, Hereditary Diffuse
Neoplasm, Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Chronic diarrhea, Ileitis, Protein-losing enteropathy, Pancolitis, Gastr... OMIM:619079
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Gastric Cancer
Stomach cancer OMIM:613659
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer, Papilloma, Astrocytoma OMIM:617100
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Cap Polyposis
Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Diarrhea ORPHA:160148
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Constipation, Gastroesophageal reflux, Diarrhea, Abnormality of the ... ORPHA:263665
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:613313
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Vomiting, Functional intestinal obstruction, Intestinal malrotation, Colonic diverticula OMIM:243180
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Recurrent pneumonia, Recurrent s... OMIM:616576
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art... OMIM:608809
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Chronic atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Di... OMIM:616100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hepatic fibrosis, Abnormal circulating hormone concentration... ORPHA:280356
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Colonic Atresia
Colonic atresia OMIM:303650
Reynolds Syndrome
Skin rash, Dysphagia, Gastroesophageal reflux, Xerostomia, Keratoconjunctivitis sicca, Abnormalit... ORPHA:779
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphoproliferative disorder, Bronchiectasis, Thyroiditis, V... OMIM:614700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Ileus, Vomiting, Myositi... ORPHA:37042
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Mixed Connective Tissue Disease
Skin rash, Pericarditis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Kerato... ORPHA:809
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal la... ORPHA:2198
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Chronic atrophic gastritis, Ch... OMIM:240300
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Copper Deficiency, Familial Benign
Abnormal circulating copper concentration, Decreased circulating copper concentration OMIM:121270
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia OMIM:604290
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibromas, Dysphagia, Constipation, Intestinal obstruction OMIM:606764
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron OMIM:602390
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Increased serum iron OMIM:604250
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Myocarditis, Sinusitis, Vomiting, Endocardi... ORPHA:73263
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Thyroiditis, Burkitt lymphoma, B-cell lymphoma, Hodgkin lymphoma, Panniculi... ORPHA:3261
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Anterior pituitary dysgenesis, Rheumatoid arthritis, Chronic atrophic gastritis, X... ORPHA:227990
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:435934
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Anterior pituitary dysgenesis, Rheumatoid arthritis, Hashimoto thyroiditis, Chroni... ORPHA:227982
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Pelvic Organ Prolapse, Susceptibility To
Bowel incontinence, Rectal prolapse OMIM:176780
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffic... OMIM:260370
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Dysphagia, Paraganglioma, Intestinal ... ORPHA:97286
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc OMIM:601979
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Diarrhea, Gastritis, Recurrent pneumonia, Meconium ileus OMIM:219721
Ethylene Glycol Poisoning
Vomiting, Nausea, Gastritis ORPHA:31826
Syndromic Diarrhea
Villous atrophy, Colitis, Hypoplasia of the thymus, Gastritis, Intractable diarrhea, Hepatoblasto... ORPHA:84064
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Microcolon
Microcolon OMIM:251400
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Hernia, Hiatus
Hiatus hernia OMIM:142400
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Increased seru... ORPHA:300298
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermanganesemia OMIM:613280
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:363400
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Hepatic fibrosis... OMIM:246200
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Ganglioneuroma
Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal rectum morphology, Color... ORPHA:251992
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Hepatosplenomegaly ORPHA:79237
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:465508
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Precocious pube... ORPHA:528
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Acute leukemia ORPHA:281090
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Trichohepatoenteric Syndrome 2
Decreased serum iron OMIM:614602
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased circulating copper concentration, Decreas... ORPHA:48818
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Increased serum iron OMIM:235200
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Rectal polyposis, Hematochezia, Small intestinal polyposis, Adenomatous ... ORPHA:329971
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron ORPHA:391372
Neuroblastoma, Susceptibility To, 2
Ganglioneuroblastoma, Aganglionic megacolon, Ganglioneuroma, Neuroblastoma OMIM:613013
Visceral Myopathy 1
Megaduodenum, Dysphagia, Constipation, Aganglionic megacolon, Intestinal pseudo-obstruction, Micr... OMIM:155310
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
African Iron Overload
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Elevated trans... ORPHA:139507
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Radiation Proctitis
Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gastrointestinal vascula... ORPHA:70475
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Abnormality of iron homeostasis ORPHA:231222
Paragangliomas 4
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... OMIM:115310
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Hyperglycinemia, Abnormal transferrin saturation, Decrease... ORPHA:309854
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Decreased hepcidin level, Abnormal circulating porp... ORPHA:101330
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Impaired glucose tolerance, Postprandia... ORPHA:769
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsi... ORPHA:2241
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocyt... ORPHA:139411
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology, Pneumonia ORPHA:2357
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hep... OMIM:151660
Congenital Tufting Enteropathy
Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morphology, Steatorrhea, Anal... ORPHA:92050
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:613327
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia OMIM:226730
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Bronchiectasis, Chronic otitis media, Pneumonia, Lymphoma, Anal at... ORPHA:1572
Intussusception
Intussusception OMIM:147710
Scleroderma
Abnormal stomach morphology, Osteomyelitis, Intestinal bleeding, Pericarditis, Myelitis, Abnormal... ORPHA:801
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... ORPHA:89842
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... OMIM:608594
Systemic Sclerosis
Abnormal stomach morphology, Osteomyelitis, Intestinal bleeding, Pericarditis, Abnormality of the... ORPHA:90291
Prader-Willi Syndrome
Hyperinsulinemia, Adrenal insufficiency, Delayed puberty, Type II diabetes mellitus, Hypogonadotr... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... OMIM:269700
Wolfram Syndrome
Gastric ulcer, Malabsorption, Constipation, Gastrointestinal hemorrhage ORPHA:3463
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424016
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Williams Syndrome
Cryptorchidism, Macroglossia, Constipation, Gastroesophageal reflux, Cholelithiasis, Polycystic o... ORPHA:904
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Bowel incontinence, A... ORPHA:512
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Neoplasm of the liver, Hypoglycemia, Hypoinsulinemia, Recurrent hy... ORPHA:2126
Fg Syndrome Type 1
Cryptorchidism, Constipation, Gastroesophageal reflux, Small pituitary gland, Malrotation of colo... ORPHA:93932
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Microgast... OMIM:156810
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Constipation, Microcolon, Ileus ORPHA:163746
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Slc39A8-Cdg
Abnormal blood zinc concentration, Hypomanganesemia ORPHA:468699
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Gastroesophageal reflux, Intestinal malrotation, Es... ORPHA:2538
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Intestinal perforation, Intussusception, Colonic stenosis, Rectal pro... ORPHA:90038
Wilson Disease
High nonceruloplasmin-bound serum copper OMIM:277900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia OMIM:619351
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc ORPHA:541423
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadism, Cholelit... ORPHA:273
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Abnormality of circulating leptin level, Hepatic stea... ORPHA:79474
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Intraalveo... ORPHA:470
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Meningioma, Neoplasm of the breast, Lymphoma, Neoplasm, Uterine neoplasm, Thyroid ... ORPHA:109
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Hepat... ORPHA:99413
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Hepat... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Hepat... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Hepat... ORPHA:99226
Dermatomyositis
Gastrointestinal stroma tumor, Pericarditis, Lymphoma, Neoplasm, Breast carcinoma, Myocarditis, L... ORPHA:221
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
17Q11 Microdeletion Syndrome
Myelodysplasia, Lisch nodules, Atypical neurofibromatosis, Gastrointestinal stroma tumor, Optic n... ORPHA:97685
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Colon perforation, Absent gallbladder OMIM:600001
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Cholelithiasis, Esophageal varix, Bacterial endocarditis ORPHA:2072
Coffin-Siris Syndrome 1
Cryptorchidism, Gastric ulcer, Intussusception, Intestinal malrotation, Cleft palate, High palate... OMIM:135900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron ORPHA:438213
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased serum zinc, Decreased plasma total carnitine, Abnormal circulating selenium concentration ORPHA:79408
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Submucous cleft hard palate ORPHA:1662
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper ORPHA:2834
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Elevated... 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 Gast

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 Gast.

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

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MGI Allele Allele Type Produced
Gasttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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