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Gene: Ccpg1 MGI:1196419

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Gene Summary

Name:
cell cycle progression 1
Synonyms:
1810073J13Rik,  D9Ertd392e,  9430028F23Rik,  1700030B06Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating amylase level Ccpg1tm1b(EUCOMM)Hmgu HOM Early adult 3.09×10-13
abnormal pancreas morphology Ccpg1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating lipase level Ccpg1tm1b(EUCOMM)Hmgu HOM Early adult 2.73×10-34

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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.

Electrocardiogram (ECG)

Waveform Image

38 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Human diseases caused by Ccpg1 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 Ccpg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Exocrine pancreatic insufficiency OMIM:618752
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia OMIM:615935
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancrea... OMIM:612714
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption, Cryptorchidism, Patent ductus arteriosus, Hypohidrosis, Exo... ORPHA:452
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency OMIM:609812
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Mahvash Disease
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia OMIM:619290
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Celiac disease, Hepatosplenomegaly, Interstitial pneumonitis, Abnormal intestine morpholo... OMIM:615952
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular ... ORPHA:65682
Pancreatic insufficiency, combined exocrine
Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis OMIM:620137
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun... ORPHA:1333
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Chronic calcifying pancreatitis, Vomiting, Abnormal ... ORPHA:103918
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Chronic diarrhea, Hepatic steatosis, Pancreatitis OMIM:618805
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Pancreatitis, Adrenal insufficiency OMIM:619386
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... OMIM:145001
Shwachman-Diamond Syndrome 2
Hepatomegaly, Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic in... OMIM:617941
Hereditary Chronic Pancreatitis
Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosis, Bronchiectasis... OMIM:219700
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Johanson-Blizzard Syndrome
Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anal atresia, Exocrine pancre... ORPHA:2315
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... ORPHA:69663
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Bone Marrow Failure Syndrome 3
Chromosome breakage, Eczema, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocr... OMIM:617052
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Central hypothyroidism, Abnormality of the liver, Hypothyroidism, Exocrin... ORPHA:1667
Cach Syndrome
Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Pancreatitis ORPHA:135
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Mody
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency ORPHA:552
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrhea, Hepatic steatos... OMIM:616263
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, High, narrow palate, Cryptorchidism ORPHA:2849
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis OMIM:145981
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Chronic diarrhea, Macronodular... OMIM:557000
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Increased inflammatory response, Sinusitis, Pericardit... ORPHA:727
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... ORPHA:31205
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Rauch-Steindl Syndrome
Hepatomegaly, Chronic constipation, Exocrine pancreatic insufficiency OMIM:619695
Maple Syrup Urine Disease
Vomiting, Pancreatitis OMIM:248600
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi... OMIM:155310
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Macroglossia, Recurrent p... OMIM:618268
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren... OMIM:618935
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis OMIM:145980
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Steatorrhea, Exocrine pancreatic insufficiency OMIM:260400
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Propionic Acidemia
Hepatomegaly, Eczema, Constipation, Vomiting, Pancreatitis OMIM:606054
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis ORPHA:70578
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, Hepatic fibrosis, Ci... OMIM:300972
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Ovarian cyst, Increased circulating cortisol level, Pancreatitis OMIM:610475
Deeah Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:619004
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:2348
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Malabsorption, Cirrhosis, Exocrine pancreatic insufficiency OMIM:616539
Mirizzi Syndrome
Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, Cholelithiasis, Abnormal ductus... ORPHA:521219
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Vomiting, Pancreatitis OMIM:251000
Systemic Capillary Leak Syndrome
Myocarditis, Diarrhea, Pancreatitis, Pericarditis ORPHA:188
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Diarrhea, Myocarditis, Hepatitis, Endocarditis, Infectious ... ORPHA:549
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Cystic Fibrosis
Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Abnormality of the liv... ORPHA:586
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Hepatomegaly, Sinusitis, Skin rash, Decreased response... ORPHA:811
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypothyroidism, Pancreatitis, Dysphagia ORPHA:412057
Familial Mediterranean Fever
Intestinal obstruction, Pericarditis, Skin rash, Malabsorption, Orchitis, Splenomegaly, Peritonit... ORPHA:342
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Goiter, Pituitary adenoma, Ade... ORPHA:733
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Hepatic steatosis, Pancreatitis OMIM:236200
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Pancreatic aplasia, High palate, Exocrine pancreatic insufficiency OMIM:618500
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Decreased res... ORPHA:699
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Hepat... OMIM:232220
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Patent ductus arteriosus, Biliary atresia, Congenital hypothyroidism, Pan... ORPHA:2255
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Citrullinemia Type Ii
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Hepatic steatosis, ... ORPHA:247585
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Diarrhea, Bloody diarrhea... ORPHA:90038
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis OMIM:600740
Orofaciodigital Syndrome Type 1
Hamartoma of tongue, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Lobulated tongu... ORPHA:2750
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Portal hypertension, Cryptorchidism, Patent ductus arteriosus, Macronodular cir... OMIM:620005
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis, Ovarian neoplasm ORPHA:370348
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Biliary tract abnormality, Gout, Exocrine pancreatic insufficiency OMIM:137920
Reynolds Syndrome
Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Ker... ORPHA:779
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Celiac disease, ... ORPHA:171
Feingold Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden... ORPHA:1305
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Vomiting, Elevated hepatic ir... OMIM:619991
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Abnormal intestine morphology, Pancreatitis, Minimal change gl... ORPHA:1830
Glycogen Storage Disease Ia
Hepatomegaly, Gout, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis OMIM:232200
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Vomiting, Dysphagia, Hepatic periportal necrosis ORPHA:26791
Familial Chylomicronemia Syndrome
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... ORPHA:444490
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... ORPHA:210122
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Panniculitis, Cirrhosis, Hepatic steatosis ORPHA:79086
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... ORPHA:99880
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis ORPHA:412
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Co... ORPHA:537
Behçet Disease
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Malab... ORPHA:117
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... ORPHA:143
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Hypothyroidism, ... OMIM:619487
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Nausea, Intestinal perforation, Myocarditis, Diarrhea, Secretory diarrhea, Bloody diar... ORPHA:544482
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Diarrhea, Conjunctivitis, Dysphagia, Pancreatitis ORPHA:36426
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Gastroparesis, Int... ORPHA:1876
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Retroperitoneal fibrosis, Orchitis, Keratitis, Abnormality of the anterio... ORPHA:449563
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis... ORPHA:116
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypothyroidism, Diarrhea, Hepatocellular adenoma, Enterocolitis, Polycystic ovaries... ORPHA:79259
Alagille Syndrome 1
Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ducts, Cirrhosis, Prol... OMIM:118450
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... ORPHA:449432
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:48818
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:280365
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Splenomegaly, Chronic d... ORPHA:3260
Cystinosis, Nephropathic
Hepatomegaly, Oral-pharyngeal dysphagia, Splenomegaly, Hypohidrosis, Primary hypothyroidism, Dysp... OMIM:219800
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Pancreatitis OMIM:619471
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency ORPHA:508498
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerulonephritis, Crescentic glomerulonephritis, Scl... ORPHA:93126
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Intestinal obstruction, Sinusitis, ... ORPHA:900
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... ORPHA:449395
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Vomiting, Pancreatitis OMIM:222700
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Diarrhea, Jaundice, Lipid accumulation in hepatocytes, Episodic... ORPHA:20
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis ORPHA:565612
Melas
Hypoparathyroidism, Intestinal pseudo-obstruction, Diarrhea, Gastrointestinal dysmotility, Recurr... ORPHA:550
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Pancreatitis ORPHA:405
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Portal hypertension, Malabsorption, Cryptorchidism, Intrahepat... OMIM:243800
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Patent ductus arteriosus, Gastroesophag... ORPHA:508488
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries OMIM:151660
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Skin rash, Naus... ORPHA:99826
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Diarrhea... ORPHA:470
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... OMIM:232240
Spondyloepimetaphyseal Dysplasia, Krakow Type
Eczema, Allergic rhinitis, Patent ductus arteriosus, High palate, Constipation, Annular pancreas OMIM:618162
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... ORPHA:1318
Glycerol Kinase Deficiency
Cryptorchidism, Episodic vomiting, Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Orchitis, Splenomegaly, Jaundice, Hematemesis, Diarrhea, Epidid... ORPHA:99827
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis OMIM:608594
Bohring-Opitz Syndrome
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Gastroesopha... OMIM:605039
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Yellow Fever
Acute pancreatitis, Skin rash, Hematemesis, Pancreatic hyperplasia, Jaundice, Diarrhea, Vomiting,... ORPHA:99829
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis, ... OMIM:267010
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis OMIM:269700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Tracheoesophageal fistula, Deficien... OMIM:227646
Pancreatoblastoma
Jaundice, Vomiting, Pancreatic calcification, Diarrhea ORPHA:677
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Patent ductus arteriosus, Gastro... OMIM:164280
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Pineal cyst, Cholecystitis, Hepatic steatosis ORPHA:98908
Scorpion Envenomation
Acute pancreatitis, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting ORPHA:466677
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... OMIM:263520
Distal Deletion 12Q
Late onset atopic dermatitis, Unilateral cryptorchidism, High, narrow palate, Patent ductus arter... ORPHA:96149
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... ORPHA:564
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia ORPHA:261265
Jacobsen Syndrome
Intestinal malrotation, Eczema, Cryptorchidism, Pyloric stenosis, Abnormality of the anus, Ectopi... ORPHA:2308
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Pyloric stenosis OMIM:147791
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... OMIM:229850
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Cleft palate ORPHA:488642
Lipodystrophy, Familial Partial, Type 7
Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia OMIM:606721
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the... ORPHA:264450
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Patent ductus arteriosus, Furrowed tongue, High palate, Gastroesophageal reflux, ... OMIM:616975
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Rothmund-Thomson Syndrome, Type 2
Anteriorly placed anus, Cryptorchidism, Annular pancreas, High palate OMIM:268400
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Pyelonephritis, Pituitary growth hormone cell adenoma... ORPHA:730
Pancreatic Agenesis-Holoprosencephaly Syndrome
Reduced C-peptide level, Absent gallbladder, Hypoamylasemia, Pancreatic aplasia ORPHA:556955
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal... OMIM:265380
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Vomiting, Cleft palate ORPHA:97297
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosis, Hypothyroi... ORPHA:1606
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Recurrent pneumonia, Central hypothyroidism, Anteriorly plac... ORPHA:798
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Hyperhidr... ORPHA:892
Williams Syndrome
Colonic diverticula, Peptic ulcer, Malabsorption, Cryptorchidism, Patent ductus arteriosus, Recta... ORPHA:904

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 Ccpg1

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 Ccpg1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Endoplasmic Reticulum Selective Autophagy Alleviates Anthracycline-Induced Cardiotoxicity. JACC. CardioOncology (July 2023) Ccpg1tm1b(EUCOMM)Hmgu PMC10635891
De novo identification of mammalian ciliary motility proteins using cryo-EM. Cell (October 2021) Ccpg1osem1(IMPC)H PMC8595878
CCPG1 Is a Non-canonical Autophagy Cargo Receptor Essential for ER-Phagy and Pancreatic ER Proteostasis. Developmental cell (December 2017) Ccpg1tm1a(EUCOMM)Hmgu PMC5791736

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
Ccpg1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ccpg1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ccpg1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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