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Gene: Irgm2 MGI:1926262

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Gene Summary

Name:
immunity-related GTPase family M member 2
Synonyms:
Gtpi,  Iigp2

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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
abnormal coat appearance Irgm2em1(IMPC)J HOM Late adult 3.29×10-06
abnormal lens morphology Irgm2em1(IMPC)J HOM Late adult 2.98×10-05
abnormal skin morphology Irgm2em1(IMPC)J HOM Late adult 1.53×10-06
decreased thigmotaxis Irgm2em1(IMPC)J HOM Early adult 2.15×10-10
decreased circulating serum albumin level Irgm2em1(IMPC)J HOM   Late adult 1.11×10-05
abnormal startle reflex Irgm2em1(IMPC)J HOM Late adult 9.56×10-06
absent vibrissae Irgm2em1(IMPC)J HOM   Late adult 5.30×10-06

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Irgm2 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 Irgm2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Crohn Disease) 19
OMIM:612278

The table below shows human diseases predicted to be associated to Irgm2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Tuftsin Deficiency
Recurrent infections OMIM:191150
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Diarrhea 13
Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Sparse hair, Alopecia, Keratoconus, Increased serum bile acid concentration, Con... OMIM:242150
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract OMIM:618805
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529799
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Leishmaniasis
Hypoalbuminemia ORPHA:507
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirs... OMIM:617303
Avian Influenza
Elevated circulating C-reactive protein concentration, Conjunctivitis, Elevated circulating creat... ORPHA:454836
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine hair, Trichor... OMIM:222470
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Action tremor, Intention tremor OMIM:254900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Sparse hair, Hypernatremia OMIM:615508
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Hypoplasia of the iris, Dystonia, Opacification of the corneal stroma OMIM:251300
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Intention tremor, Tremor OMIM:212065
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Kayser-Fleischer ring, Hand tremor, Hyperbilir... OMIM:277900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Decreased circulating pr... ORPHA:37042
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Alopecia, Nail dystrophy, Corneal opacity ORPHA:79396
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Dystonia OMIM:619487
Xfe Progeroid Syndrome
Hypoalbuminemia, Corneal scarring OMIM:610965
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Hirsutism OMIM:235510
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Low posterior hairline, Hypoalbuminemia ORPHA:79324
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Hypertrichosis, Long eyelashes, Thick hair, Conjunctivitis ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Alopecia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Hirsuti... ORPHA:2298
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Tremor, Exaggerated startle response OMIM:620327
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Kawasaki Disease
Hypoalbuminemia, Abnormality of nail color, Conjunctival hyperemia, Elevated circulating C-reacti... ORPHA:2331
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614748
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Ca... OMIM:270400
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Glycine Encephalopathy With Normal Serum Glycine
Long eyelashes, Exaggerated startle response OMIM:617301
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Developmental And Epileptic Encephalopathy 49
Long eyelashes, Thick eyebrow, Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response, Hirsutism ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hirsutism ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Hirsutism OMIM:617527
Asparagine Synthetase Deficiency
Hypoasparaginemia, Tremor, Exaggerated startle response OMIM:615574
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response OMIM:620423
Sandhoff Disease
Exaggerated startle response OMIM:268800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Exaggerated startle response OMIM:618367
Pmm2-Cdg
Hypoalbuminemia, Cataract, Reduced thyroxin-binding globulin ORPHA:79318
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Decreased circulating iron concentration, High anterior hairline, Exaggerated startle r... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Inflammatory Bowel Disease (Crohn Disease) 19
OMIM:612278

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 Irgm2

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 Irgm2.

No publications found that use IMPC mice or data for Irgm2.

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MGI Allele Allele Type Produced
Irgm2tm236839(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Irgm2em1(IMPC)J Intra-exon deletion Mice

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