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Gene: Galt MGI:95638

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Gene Summary

Name:
galactose-1-phosphate uridyl transferase
Synonyms:
N/A

Order Alleles

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
impaired glucose tolerance Galtem1(IMPC)H HOM Early adult 4.91×10-07

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Viewing: all phenotypes

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 Galt mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Galt by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:230400

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Acute Disseminated Encephalomyelitis
Viral hepatitis, Hypointensity of cerebral white matter on MRI, Disseminated viral infection, Sev... ORPHA:83597
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Short stature, Decreased response to growth hormon... OMIM:307200
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
L-2-Hydroxyglutaric Aciduria
Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis ORPHA:79314
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosu... ORPHA:1194
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Intrauterine growth retardation, Viral encephalitis OMIM:619441
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Cerebellar vermis hypoplasia, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Recurrent ... OMIM:619876
Zika Virus Disease
Maculopapular exanthema, Skin rash, Edema, Microcephaly, Meningitis, Congenital intracerebral cal... ORPHA:448237
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Fulminant hepatitis, Meningitis, Re... OMIM:308240
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Arthritis, Infectious encephalitis ORPHA:42642
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver, Infectious encephalitis ORPHA:205
Congenital Enterovirus Infection
Skin rash, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Meningitis, Hydrops ... ORPHA:292
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cerebral edema OMIM:201450
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Meningitis, Unusual CNS infection, Bronchiectasis... ORPHA:1163
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Hepatosplenomegaly, Recurrent ... OMIM:618982
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum... OMIM:300635
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ... ORPHA:247585
Cerebral Visual Impairment
Microcephaly, Meningitis, Hydrocephalus, Unusual CNS infection, Abnormal cerebral white matter mo... ORPHA:447788
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Angioedema... ORPHA:139402
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Glioblastoma
Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology ORPHA:360
Kcnq2-Related Epileptic Encephalopathy
Abnormal globus pallidus morphology, Cerebral atrophy, Abnormal cerebral white matter morphology,... ORPHA:439218
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Cerebral white matter atrophy, Myelopathy, Leukoencephalopathy, Cervical myelop... OMIM:617186
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Cerebellar edema, Abnormal basal ganglia MRI signal i... ORPHA:363558
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Cryptococcosis
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Hydrocephalus, Cirrhosis, Pleural effusion, Pr... ORPHA:1546
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Cerebral edema OMIM:611126
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal cerebral white matter morphology, Hashimoto thyroiditis, Cerebral edema, Goiter ORPHA:83601
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Edema, Osteomyelitis, Skin rash, Glomerulonephritis, R... ORPHA:36234
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Cerebral edema, Cerebral atrophy, Microcephaly OMIM:614462
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Cerebral edema, Oli... OMIM:617713
Japanese Encephalitis
Abnormal substantia nigra morphology, Paucity of anterior horn motor neurons, Meningitis, Abnorma... ORPHA:79139
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent pneumonia, EBV encephali... OMIM:615122
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Cerebral edema OMIM:602481
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Abnormal medulla oblongata morphology, Sinusitis, Pneumonia, Pustule, Abn... ORPHA:68
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Cerebral edema OMIM:614212
Lyme Disease
Uveitis, Joint swelling, Arthritis, Meningitis, Infectious encephalitis ORPHA:91546
Neurocutaneous Melanocytosis
Meningocele, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, ... ORPHA:2481
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Maple Syrup Urine Disease
Pancreatitis, Cerebral edema OMIM:248600
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Facial edema, Periorbital edem... ORPHA:319213
Reynolds Syndrome
Hepatomegaly, Skin rash, Jaundice, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, ... ORPHA:779
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Meningitis, Hepatitis, Conjunctivitis, Increased circul... ORPHA:454836
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Myocarditis, Hydrocephalus, Uveitis, Pedal ed... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Microcephaly, ... OMIM:611182
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... ORPHA:540
American Trypanosomiasis
Hepatomegaly, Skin rash, Edema, Periorbital edema, Splenomegaly, Myocarditis, Infectious encephal... ORPHA:3386
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase... ORPHA:99901
Dural Sinus Malformation
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Hypoplasia of the frontal lobes, Cereb... ORPHA:97339
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Intrauterine growth retardation, Hepatic failure, Cerebral edema OMIM:619355
Angiostrongyliasis
Unusual CNS infection, Meningitis, Cerebral edema ORPHA:74
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Typhoid
Skin rash, Hepatomegaly, Infectious encephalitis, Splenomegaly ORPHA:99745
Gm1 Gangliosidosis
Recurrent respiratory infections, Short stature, Splenomegaly, Hydrops fetalis, Hepatosplenomegal... ORPHA:354
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Hepatomegaly, Hypospadias, Microcephaly, Splenomegaly, Focal T2 hypointense b... OMIM:252010
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Micronodular cirrhosi... ORPHA:139507
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis... ORPHA:549
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Meningitis, Infectious encephalitis ORPHA:83317
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Edema, Splenomegaly, Jaundice, Meningitis... OMIM:603553
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent ... ORPHA:169160
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Cerebral edema ORPHA:569
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Unusual skin infection, Pneumonia, Abnormality ... ORPHA:31202
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Abnormal cerebral white matter morphology, Skin rash, Cerebral edema, Cerebral atrophy OMIM:618321
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio... ORPHA:314478
Griscelli Syndrome
Encephalocele, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hydrocephalus, Hepatitis, Ped... ORPHA:381
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... ORPHA:829
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Recurrent bacte... OMIM:308230
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:237300
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Cerebral edema ORPHA:88619
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... ORPHA:2137
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Pontocerebellar atrophy, Lissencephaly, Recurrent lower respiratory tract infections, P... ORPHA:258
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Short stature, Recurrent urinary tract infections, Micr... ORPHA:847
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Recurr... ORPHA:47
Listeriosis
Liver abscess, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis, Brain abscess,... ORPHA:533
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Pulmonary tuberculosis, Cholecys... ORPHA:183675
Chronic Mucocutaneous Candidiasis
Dyspareunia, Recurrent urinary tract infections, Recurrent respiratory infections, Skin rash, Che... ORPHA:1334
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Cerebral edema, Leukoencephalopathy ORPHA:284388
Hartnup Disease
Skin rash, Short stature, Infectious encephalitis ORPHA:2116
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Meningitis, Infectious encephalitis, Generalized edema OMIM:267700
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Secondary microcephaly, Hepatitis ORPHA:363523
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ... ORPHA:314473
Herpes Simplex Virus Encephalitis
Cerebral edema ORPHA:1930
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis ORPHA:848
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P... ORPHA:31204
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Inflammatory abnormality of the skin, Recurrent herpes, Short s... ORPHA:391487
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Megalencephaly, Cryptorchidism, Abnormality of the Leydig cells, Test... ORPHA:3063
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Nephritis, Infectio... ORPHA:73263
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Severe viral infection, Hepatitis, Uveitis, M... ORPHA:319251
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ... ORPHA:440713
Argininosuccinic Aciduria
Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Ce... OMIM:207900
Citrullinemia, Classic
Hepatomegaly, Cirrhosis, Cerebral edema OMIM:215700
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... ORPHA:79095
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Meningococcal Meningitis
Skin rash, Infectious encephalitis ORPHA:33475
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:311250
Brucellosis
Liver abscess, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis, Hepatomega... ORPHA:1304
Alexander Disease
Cerebral calcification, Megalencephaly, Precocious puberty, Aqueductal stenosis, Hydrocephalus, A... ORPHA:58
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Edema, Orchitis, Pustule, Angioedema, Arthritis, Infectious encephalitis ORPHA:761
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... OMIM:614921
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Ethylene Glycol Poisoning
Gastritis, Cerebral edema, Pulmonary edema ORPHA:31826
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Microcephaly, Hepatic melanin-like lysosomal... OMIM:208085
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Short stature, Recurrent skin infections, Herpes simplex encephalitis, Recurrent up... OMIM:233600
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... ORPHA:572
Incontinentia Pigmenti
Short stature, Skin rash, Supernumerary nipple, Keratitis, Uveitis, Spina bifida occulta, Infecti... ORPHA:464
Satoyoshi Syndrome
Short stature, Microcephaly, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of th... ORPHA:3130
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Cerebral cortical atrophy, Decreased liver function, Hepatomegaly OMIM:238970
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatic failure, Biliary cirrhosis, Hepatitis, Gastrointestinal in... ORPHA:186
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Basal ganglia calcification, Hepatic steatosis, Hepatomegaly, Intracer... OMIM:615846
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Microcephaly, Jaundice, Choles... OMIM:613404
Trichohepatoenteric Syndrome 2
Hepatomegaly, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine growth retardation OMIM:614602
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Müllerian Aplasia And Hyperandrogenism
Short stature, Acne, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Ab... ORPHA:247768
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Premature ... OMIM:240300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoriasiform dermatitis, Hepatitis, ... ORPHA:37042
Poliomyelitis
Meningitis, Infectious encephalitis, Myelitis ORPHA:2912
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, ... OMIM:240500
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Spondyloenchondrodysplasia
Cerebral calcification, Short stature, Decreased response to growth hormone stimulation test, Pne... ORPHA:1855
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... ORPHA:229717
Chikungunya
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Crusting erythematous dermati... ORPHA:324625
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Recurrent respiratory infections, Short stature, Portal hypertension, Hypersplenism... OMIM:613385
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Pleural effusion, Meningitis ORPHA:545
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Increased circu... ORPHA:543
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Ascites ORPHA:584
Neonatal Alloimmune Neutropenia
Severe infection, Jaundice, Meningitis, Pneumonia ORPHA:464370
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep dermatophytosis, Meningitis OMIM:212050
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Xerostomia, Biliary cirrhosis,... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... ORPHA:227982
Dominant Beta-Thalassemia
Hypoparathyroidism, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic infe... ORPHA:231226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Severe infection, Hepatitis, Arthritis, Erythroderma OMIM:304790
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Hypoplas... OMIM:300400
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Recurr... OMIM:610199
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunctivitis, Otitis media, ... ORPHA:3392
Cinca Syndrome
Skin rash, Lymphedema, Uveitis, Hepatosplenomegaly, Growth delay, Arthritis, Meningitis OMIM:607115
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Psoriasiform dermatitis, Polyhydramnios, Enterocolitis, Hypopla... OMIM:243150
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotran... OMIM:277900
Lichen Planopilaris
Hepatitis ORPHA:525
Cysticercosis
Iridocyclitis, Cerebral calcification, Infectious encephalitis, Posterior fossa cyst at the fourt... ORPHA:1560
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Kawasaki Disease
Pericarditis, Skin rash, Edema, Myocarditis, Jaundice, Recurrent pharyngitis, Hepatitis, Cheiliti... ORPHA:2331
Immunodeficiency 46
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Short stature, Decreased response to growth hormone stimulation te... ORPHA:293987
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Premature ovarian insufficiency, Pituitary adenoma, Adrenocorticotropic hormo... ORPHA:199299
Gorham-Stout Disease
Osteomyelitis, Elevated alkaline phosphatase of bone origin, Edema, Chiari type I malformation, P... ORPHA:73
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Recurrent abscess f... ORPHA:436252
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ... ORPHA:722
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Pericardial effusion, Splenomegaly, Angioedema, Meningitis... ORPHA:36412
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Sple... ORPHA:3261
Fusariosis
Brain abscess, Myositis, Sinusitis, Fasciitis, Maculopapular exanthema, Pneumonia, Osteomyelitis,... ORPHA:228119
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Multifocal cerebral white matter abnormal... ORPHA:415
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Meningitis, Oligozoospermia, Hypogo... ORPHA:91351
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Myasthenia Gravis
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis ORPHA:589
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abnormality of the male g... ORPHA:228123
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie... OMIM:619381
Autoinflammation With Infantile Enterocolitis
Skin rash, Short stature, Splenomegaly, Enterocolitis, Meningitis OMIM:616050
Cinca Syndrome
Hepatomegaly, Edema, Retrobulbar optic neuritis, Splenomegaly, Meningitis, Uveitis, Growth delay,... ORPHA:1451
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... ORPHA:3260
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... ORPHA:70593
Gaucher Disease
Hepatomegaly, Osteomyelitis, Short stature, Splenomegaly, Osteoarthritis, Hydrocephalus, Hydrops ... ORPHA:355
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infect... ORPHA:169090
Adenohypophysitis
Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolactin concentrat... ORPHA:95512
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... ORPHA:509
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites OMIM:215600
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... ORPHA:2968
Panhypophysitis
Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolactin concentrat... ORPHA:95513
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Mixed Connective Tissue Disease
Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Myocarditis, Xerostomia... ORPHA:809
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Splenomegaly, M... ORPHA:379
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonit... ORPHA:342
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Meningitis, Arthritis, Crohn's d... OMIM:249100
Arachnoiditis
Hydrocephalus, Meningitis ORPHA:137817
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis OMIM:612260
Sheehan Syndrome
Dyspareunia, Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolact... ORPHA:91355
Occipital Horn Syndrome
Recurrent urinary tract infections, Cerebral calcification, Jaundice, Hepatitis, Cholestasis, Eso... ORPHA:198
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... ORPHA:51636
Turner Syndrome Due To Structural X Chromosome Anomalies
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... ORPHA:99413
Turner Syndrome
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... ORPHA:881
Mosaic Monosomy X
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... ORPHA:99228
Monosomy X
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... ORPHA:99226
Sepsis In Premature Infants
Hepatomegaly, Disseminated viral infection, Edema, Splenomegaly, Jaundice, Severe infection, Ente... ORPHA:90051
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Micropenis, Abnormal extern... ORPHA:95699
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Abnormality of the ovary, Hypogonadism, Vaginal atresia, Hepatic fibro... OMIM:209900
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Short stature, ... ORPHA:99843
Hydranencephaly
Postnatal growth retardation, Primary microcephaly, Intrauterine growth retardation, Meningitis, ... ORPHA:2177
Igg4-Related Kidney Disease
Lymphadenitis, Pedal edema, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Meningitis... ORPHA:449395
Tick-Borne Encephalitis
Elevated hepatic transaminase, Abnormal medulla oblongata morphology, Unusual CNS infection, Meni... ORPHA:297
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hydromyelia, Meni... OMIM:600145
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent respiratory infect... ORPHA:900
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratiti... ORPHA:906
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pneumonia, Edema, Myocarditis, Severe infection, Severe viral infection, Pleural e... ORPHA:544482
Giant Cell Arteritis
Pericarditis, Recurrent pharyngitis, Arthritis, Hepatic failure, Meningitis ORPHA:397
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Conjunctivitis, Meningitis ORPHA:863
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Palpebral edema, Skin rash, Pustule, Splenomegaly, M... ORPHA:50918
Progressive Multifocal Leukoencephalopathy
Meningitis ORPHA:217260
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Meningitis, Recurrent pneumonia, Recurrent infections, Inflammation of the large intes... OMIM:617718
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:230400
Plague
Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenomegaly, Menin... ORPHA:707
Acute Transverse Myelitis
Invasive parasitic infection, Extrapulmonary tuberculosis, Priapism, Severe viral infection, Diss... ORPHA:139417
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Recurrent pneumonia, Recurrent upper respiratory tract infections, Ulce... OMIM:301000

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 Galt

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 Galt.

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

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
Galttm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Galtem2(IMPC)H Indel Mice
Galtem1(IMPC)H Indel Mice

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