Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
golgi autoantigen, golgin subfamily a, 2
Synonyms:
GM130

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 Golga2 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 Golga2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Eleva... OMIM:178500
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Pulmonary fibrosis, Decreased DLCO, Usual interstitial pneumonia, Reduced forced expiratory volum... OMIM:616373
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Pulmonary fibrosis, Cough, Decreased DLCO, Honeycomb lung, Reduced forced expiratory volume in on... OMIM:616371
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Abnormality of the hepatic vasculature, Restrictive ventilatory defect, Dy... ORPHA:210136
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary h... OMIM:178550
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Dyspnea, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Co... OMIM:614742
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Cirrhosis, Pulmonary fibrosis, Pancytopenia, Aplastic anemia, Leukemia OMIM:614743
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Cough, Plasmacytosis, Nodular pattern on pulmonary HRCT ORPHA:60026
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia ORPHA:306550
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Neutropenia, Abnormal tracheobronchial morphology, S... ORPHA:1163
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Chronic pulmonary obstruction, Bronchiectasis, Pulmonary fibros... OMIM:618986
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Anteverted nares, Prominent nose ORPHA:446
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pulmonary fibrosis, Biliary cirrhosis, Hepatomegaly, Recurrent... ORPHA:586
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Pulmonary fibrosis OMIM:615704
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Elevated hepatic transaminase, Hepat... OMIM:615486
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Leukocyt... ORPHA:90060
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... OMIM:616291
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosi... ORPHA:369
Felty Syndrome
Recurrent pneumonia, Pleuritis, Pulmonary fibrosis, Abnormal lymphocyte morphology, Neutropenia, ... ORPHA:47612
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Bone-marrow foam cells,... OMIM:278000
Immunodeficiency 60
Bronchiectasis, Pulmonary fibrosis, Decreased proportion of memory B cells, Decreased basophil co... OMIM:618394
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of m... ORPHA:79124
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Abnormal pul... OMIM:613101
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Broad nasal tip, Depressed nasal b... OMIM:232400
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jau... OMIM:616278
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Pancytopenia, Decreased liver ... OMIM:606003
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, H... OMIM:231100
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis OMIM:609313
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Short stature, ... OMIM:608029
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia, Pulmonary hypoplasia OMIM:615415
Coach Syndrome 2
Elevated hepatic transaminase, Hepatic fibrosis, Apneic episodes in infancy, Congenital hepatic f... OMIM:619111
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... OMIM:616948
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Braddock Syndrome
Pulmonary fibrosis, Neonatal respiratory distress, Laryngeal web, Failure to thrive, Pulmonary ar... ORPHA:52047
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Nasal polyposis,... OMIM:615518
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Pulmonary fibrosis, Pleural effusion, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p... OMIM:265120
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis, Failure to thrive in infancy, Hepatomegaly, Splenomegal... OMIM:612852
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Failure to thrive, Hepatic failure OMIM:602579
Polymyositis
Exertional dyspnea, Pulmonary fibrosis, Cough, Weight loss, Respiratory insufficiency, Hepatomega... ORPHA:732
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Microcytic anemia, Hepatic steatos... OMIM:619013
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Mpi-Cdg
Congenital hepatic fibrosis, Hepatic failure ORPHA:79319
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Pulmonary fibrosis, Interstitial pneumonitis, Lymphopenia, Thrombocytopenia, Aplastic ... OMIM:127550
Hermansky-Pudlak Syndrome 4
Restrictive ventilatory defect, Abnormal platelet granules, Epistaxis, Pulmonary fibrosis OMIM:614073
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase ... ORPHA:53035
Mixed Connective Tissue Disease
Pleuritis, Dyspnea, Hemolytic anemia, Pulmonary fibrosis, Hepatomegaly, Abnormal pulmonary inters... ORPHA:809
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Dyskeratosis Congenita, Autosomal Dominant 2
Pulmonary fibrosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Failure to thrive OMIM:613989
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease OMIM:612284
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Recurrent upper respiratory tract infections... ORPHA:333
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Tracheoesophageal fistula, Pulmonary fibrosis ORPHA:1839
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly, Obesity OMIM:615630
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Pulmonary fibrosis ORPHA:457240
Hermansky-Pudlak Syndrome 2
Pulmonary fibrosis, Neutropenia, Wide nasal bridge, Hepatomegaly, Thrombocytopenia, Reduced natur... OMIM:608233
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Neonatal death, Pulmonary hyp... OMIM:263200
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Dyspnea, Persistence of hemoglobin F, Decreased mean co... ORPHA:231226
Antisynthetase Syndrome
Pulmonary fibrosis, Cough, Respiratory insufficiency, Abnormal pulmonary interstitial morphology,... ORPHA:81
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pulmonary fibrosis, Lymphopenia, Leukopenia, Failure to thrive, Anemia, Tachypnea... OMIM:615934
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:181000
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Pneumonia, Weight loss, Hepatomegaly, Abnor... ORPHA:97287
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia,... OMIM:617180
Gaucher Disease, Type I
Dyspnea, Epistaxis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Pancytopenia, Throm... OMIM:230800
Nephronophthisis 16
Hepatic fibrosis, Cholestasis OMIM:615382
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Thrombocytopenia, Aplastic anemia, Pulmonary fibrosis OMIM:224230
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Dyspnea, Persistence of hemoglobin F, Decreased mean co... ORPHA:231214
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:617241
Typhoid
Cough, Epistaxis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Splenomegaly ORPHA:99745
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Anemia, Cholestasis OMIM:266920
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Hemochromatosis Type 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Abnormality of endocrine pancreas phy... ORPHA:79230
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity ORPHA:2377
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Hepatomegaly, Abnormal pulmonary interstitial morphology, Pulmonar... ORPHA:330001
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Idiopathic Hypereosinophilic Syndrome
Cough, Chronic hepatitis, Pulmonary embolism, Anemia, Neutrophilia, Eosinophilia, Respiratory dis... ORPHA:3260
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Medullary Thyroid Carcinoma
Weight loss, Neoplasm of the lung, Abnormal liver parenchyma morphology ORPHA:1332
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Recurrent upper respiratory tract... OMIM:615952
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct ... OMIM:216360
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma, Acute hepat... ORPHA:171
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Pulmonary hypoplasia, Underdeveloped nasal alae, Abnormal lung lobation OMIM:263210
Riddle Syndrome
Chronic sinusitis, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Pneum... ORPHA:420741
Erdheim-Chester Disease
Dyspnea, Pulmonary fibrosis, Pleural effusion, Cough, Weight loss, Abnormal pulmonary interstitia... ORPHA:35687
Fusariosis
Peritonitis, Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bron... ORPHA:228119
Acrocephalopolydactylous Dysplasia
Short nose, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Pulmonary hypoplasi... OMIM:200995
Bardet-Biedl Syndrome
Hepatic fibrosis, Prominent nasal bridge, Obesity ORPHA:110
Hermansky-Pudlak Syndrome 10
Apnea, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Splenomegaly, Recur... OMIM:617050
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Periportal fibrosis, Thrombocytopenia, Cholangitis, Recurrent pneumonia,... ORPHA:731
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Neonatal re... ORPHA:209905
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Choanal atresia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancre... OMIM:610199
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Hepatomegaly, Abnormal pulmonary interstitial morphology, P... ORPHA:77259
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:265450
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Thymoma
Dyspnea, Hemolytic anemia, Abnormal pleura morphology, Cough, Abnormality of the peritoneum, Abno... ORPHA:99867
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Granulomatosis With Polyangiitis
Restrictive ventilatory defect, Pleuritis, Chronic pulmonary obstruction, Pulmonary fibrosis, Cou... ORPHA:900
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension OMIM:616589
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary infiltrates, Dyspnea, Pulmonary fibrosis ORPHA:220393
Hermansky-Pudlak Syndrome 1
Restrictive ventilatory defect, Epistaxis, Pulmonary fibrosis OMIM:203300
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Underdeveloped nasal alae, Respiratory insufficiency, Congenital hepatic fibrosis, An... ORPHA:2031
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Wide nasal bridge, Hepatomegaly OMIM:601539
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Cirrhosis, Tachypnea, Elevated hepatic transaminase, Hepatic steatosis, Emphysema,... OMIM:613658
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Adams-Oliver Syndrome
Cirrhosis, Pulmonary arterial hypertension, Thrombocytopenia, Congenital hepatic fibrosis, Failur... ORPHA:974
Donohue Syndrome
Hepatic fibrosis, Severe failure to thrive, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Increased mean platelet volume, Cholestasis, Hepatic fibrosis, Jaundic... OMIM:222470
Sarcoidosis
Bronchiectasis, Cough, Weight loss, Decreased liver function, Leukopenia, Anemia, Abnormal nasal ... ORPHA:797
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary fibrosis, Spontaneous, recurrent epistaxis, Cholelithiasis, Hepatic fibrosis, Abnormal ... ORPHA:2072
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Leukocytosis, Intrahepatic cholestasis, Hepatomegaly, J... ORPHA:480520
Q Fever
Elevated hepatic transaminase, Respiratory distress, Pleural effusion, Cough, Granuloma, Pneumoni... ORPHA:781
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Respiratory insufficiency, Hepat... OMIM:208500
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly,... OMIM:212065
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, ... ORPHA:101330
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Tachypnea, Respira... OMIM:201475
Citrullinemia Type Ii
Decreased body mass index, Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carci... ORPHA:247585
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Peripheral pulmonary artery stenosis, Increased mean plat... ORPHA:84064
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Bone-marrow foam cells, Microvesicular hepatic steatosis, Elevate... ORPHA:275761
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatic failure,... ORPHA:541423
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation, Breathing dysregulation OMIM:610688
Dyskeratosis Congenita, Autosomal Dominant 3
Pulmonary fibrosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia OMIM:613990
Al Amyloidosis
Dyspnea, Nonproductive cough, Weight loss, Hepatomegaly, Abnormal pulmonary interstitial morpholo... ORPHA:85443
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Pulmonary infiltrates, Pulmonary interstitial lymphocyte inf... OMIM:606367
Scleroderma
Dyspnea, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Hypereosinophilia, Pulmo... ORPHA:801
Hermansky-Pudlak Syndrome
Dyspnea, Pulmonary fibrosis, Neutropenia, Epistaxis, Weight loss ORPHA:79430
Primary Biliary Cholangitis
Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Hepatic fibrosis, Jaundice, Hepatitis, He... ORPHA:186
Joubert Syndrome 1
Episodic tachypnea, Central apnea, Hepatic fibrosis, Anteverted nares, Neonatal breathing dysregu... OMIM:213300
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Reactive Arthritis
Abnormal pleura morphology, Respiratory insufficiency, Weight loss, Pulmonary fibrosis ORPHA:29207
Juvenile Dermatomyositis
Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, Weight loss ORPHA:93672
Gaucher Disease
Cirrhosis, Pulmonary fibrosis, Respiratory insufficiency, Hepatomegaly, Abnormal pulmonary inters... ORPHA:355
Dermatomyositis
Pulmonary fibrosis, Weight loss, Respiratory insufficiency, Abnormal pulmonary interstitial morph... ORPHA:221
Joubert Syndrome With Hepatic Defect
Apnea, Cirrhosis, Elevated hepatic transaminase, Abnormal pattern of respiration, Chronic hepatic... ORPHA:1454
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Asthma, Biliary tract abnormality, Obesity OMIM:209900
Short Rib-Polydactyly Syndrome
Hepatic cysts, Abnormal larynx morphology, Hepatic fibrosis, Abnormal epiglottis morphology, Resp... ORPHA:1505
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Failure to thrive OMIM:616263
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hepatic fibrosis, H... ORPHA:14
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Dyskeratosis Congenita, X-Linked
Cirrhosis, Restrictive ventilatory defect, Pulmonary fibrosis, Pancytopenia, Thrombocytopenia, Ac... OMIM:305000
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Hepat... ORPHA:227990
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Systemic Sclerosis
Abnormal pulmonary interstitial morphology, Dyspnea, Pulmonary arterial hypertension, Pulmonary f... ORPHA:90291
Argininosuccinic Aciduria
Hepatic fibrosis, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferas... OMIM:207900
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Inc... ORPHA:2442
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Abnormality of the larynx, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Hypoplasi... OMIM:263520
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Respiratory failure requiring assisted ventilation, Acute... ORPHA:77293
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Hepat... ORPHA:227982
Gaucher Disease Type 3
Hepatomegaly, Abnormal pulmonary interstitial morphology, Pancytopenia, Thrombocytopenia, Anemia,... ORPHA:77261
Orofaciodigital Syndrome I
Underdeveloped nasal alae, Hepatic cysts, Pancreatic cysts, Wide nasal bridge, Hepatic fibrosis OMIM:311200
Diaphanospondylodysostosis
Short nose, Respiratory distress, Tracheomalacia, Respiratory insufficiency, Abnormal liver lobul... OMIM:608022
Arima Syndrome
Dyspnea, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Tachypnea OMIM:243910
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Cranioectodermal Dysplasia 1
Hepatic cysts, Malformation of the hepatic ductal plate, Wide nasal bridge, Hepatic fibrosis, Hep... OMIM:218330
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Respiratory insufficiency, Atelectasis, Hepatomegaly, Neonatal death, Pulmon... OMIM:269860
Primary Sjögren Syndrome
Chronic active hepatitis, Nonproductive cough, Biliary cirrhosis, Bronchitis, Decreased proportio... ORPHA:289390
Brucellosis
Lung abscess, Thrombocytosis, Pulmonary granulomatosis, Abnormal respiratory system morphology, L... ORPHA:1304
Kikuchi-Fujimoto Disease
Lymphocytosis, Elevated hepatic transaminase, Pleural effusion, Neutropenia, Weight loss, Hepatom... ORPHA:50918
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Abnormal liver parenchy... ORPHA:456312
Primary Fanconi Renotubular Syndrome
Weight loss, Pulmonary fibrosis ORPHA:3337
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Aarskog Syndrome, Autosomal Dominant
Cirrhosis, Wide nasal bridge, Hepatomegaly, Abnormal pulmonary interstitial morphology, Anteverte... OMIM:100050
Cryptococcosis
Peritonitis, Cirrhosis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodula... ORPHA:1546
Kawasaki Disease
Leukocytosis, Abnormal pulmonary interstitial morphology, Jaundice, Hepatitis, Cholecystitis, Rec... ORPHA:2331
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Failure to thrive... ORPHA:99413
Turner Syndrome
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Failure to thrive... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Failure to thrive... ORPHA:99228
Monosomy X
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Failure to thrive... ORPHA:99226
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Pancreatic fibrosis, Cystic liver disease, Asplenia, Congenit... ORPHA:564
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia, Bulbous nose, Abnormal lung lobation ORPHA:99776
Chronic Graft Versus Host Disease
Wheezing, Dyspnea, Elevated hepatic transaminase, Bronchiectasis, Pleural effusion, Cough, Weight... ORPHA:99921
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Respiratory distress, Abnormal pulmonary interstitial morphology, Neonatal respiratory distress, ... OMIM:614748
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Bifid epiglottis, Respiratory insufficiency, Pulmonary hypoplasia, Congenital hepatic fibrosis, W... ORPHA:93271
Alström Syndrome
Abnormal liver physiology, Pulmonary arterial hypertension, Obesity, Cirrhosis, Respiratory distr... ORPHA:64
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Impaired neutrophil chemotaxis, Hepatic fibr... ORPHA:79318
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern on pulmonary HR... OMIM:130050

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 Golga2

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 Golga2.

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

Title Journal IMPC Allele PubMed ID
GOLGA2 loss causes fibrosis with autophagy in the mouse lung and liver. Biochemical and biophysical research communications (November 2017) Golga2tm1(KOMP)Vlcg 29128360

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Golga2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Golga2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter