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Gene: Tgm6 MGI:3044321

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Gene Summary

Name:
transglutaminase 6
Synonyms:
TGM3L

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
improved glucose tolerance Tgm6tm1a(KOMP)Wtsi HOM Early adult 6.02×10-05
decreased circulating serum albumin level Tgm6tm1a(KOMP)Wtsi HOM Early adult 9.82×10-05
increased lean body mass Tgm6tm1a(KOMP)Wtsi HOM Early adult 5.54×10-05
persistence of hyaloid vascular system Tgm6tm1a(KOMP)Wtsi HOM   Early adult 9.55×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

1 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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X-ray

XRay Images Forepaw

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Tgm6tm1a(KOMP)Wtsi
HOM, Female, WTSI
Tgm6tm1a(KOMP)Wtsi
HOM, Female, WTSI
Tgm6tm1a(KOMP)Wtsi
HOM, Female, WTSI
Tgm6tm1a(KOMP)Wtsi
HOM, Female, WTSI
Tgm6tm1a(KOMP)Wtsi
WT, Female, WTSI

View all 76 images

Tgm6tm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Male, WTSI

Human diseases caused by Tgm6 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 Tgm6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 35
OMIM:613908
Spinocerebellar Ataxia Type 35
ORPHA:276193

The table below shows human diseases predicted to be associated to Tgm6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
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
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 53
Recurrent respiratory infections, Recurrent infections, Recurrent otitis media OMIM:617585
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis OMIM:613494
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... ORPHA:319552
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections OMIM:619437
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu... OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... OMIM:605258
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Failure to thrive, Hypotriglyceridemia, Hypocholesterole... OMIM:246700
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent sinusitis, Recurrent ... OMIM:613493
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... OMIM:300636
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent lower respiratory tract infection... OMIM:613501
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Recurrent bact... OMIM:300310
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A... OMIM:618858
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Retinal degeneration, Hypoalbuminemia ORPHA:79320
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:613502
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:606176
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Ataxia-Oculomotor Apraxia 4
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:616267
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating lipid concentration, Decreased body weight, Fasting hypogl... ORPHA:2298
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Recurrent viral infections... OMIM:209920
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Increased circulating ferritin concentration, Elevated circulating C-reactive ... OMIM:616050
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media OMIM:612692
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... ORPHA:86816
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus ORPHA:231736
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Failure to thrive, Increased... OMIM:267700
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Thymic Aplasia
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... ORPHA:83471
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Disseminated molluscum contagiosum, Recurrent sinusitis, Recurrent otitis media, Recurrent sinopu... OMIM:243700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Fa... OMIM:242150
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... ORPHA:2688
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:607594
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... OMIM:610984
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia ORPHA:2070
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Fail... ORPHA:88618
Refractory Celiac Disease
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Hyperbilirubinemia, Hyperamm... ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Immunodeficiency 32B
Failure to thrive, Hypoalbuminemia OMIM:226990
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Optic atrophy, Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:618329
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent herpes, Chronic mucocutaneous candidiasis, ... ORPHA:572
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Neonatal hypoglycemia, Elevated circulating creatine kinase concentrat... OMIM:619055
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... ORPHA:169090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Failure to thrive, Increased circulating ferritin concentration, Hypop... OMIM:603553
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... OMIM:116920
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... OMIM:251880
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... OMIM:147060
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypertyrosinemia, Conjug... OMIM:617156
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233710
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Large for gestational ag... ORPHA:552
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Recurrent urinary tract infections, Pyoderma, Recurrent oti... OMIM:307200
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Primary Intestinal Lymphangiectasia
Weight loss, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Diarrhea 10, Protein-Losing Enteropathy Type
Coloboma, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Sepsis OMIM:617475
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233690
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Agammaglobulinemia 1, Autosomal Recessive
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections,... OMIM:601495
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent shingles, Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recur... ORPHA:183675
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia ORPHA:367
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... ORPHA:331235
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Avian Influenza
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elevated circulating crea... ORPHA:454836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Xfe Progeroid Syndrome
Failure to thrive, Cachexia, Optic atrophy, Hypoalbuminemia OMIM:610965
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Retinal hemorrhage, Abnormal circulating protein conc... ORPHA:86839
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Aicardi-Goutieres Syndrome 9
Failure to thrive, Optic atrophy, Weight loss, Hypoalbuminemia OMIM:619487
Alg12-Cdg
Failure to thrive, Hypocholesterolemia, Recurrent hypoglycemia, Hyponatremia, Retinal detachment,... ORPHA:79324
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... ORPHA:486
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Cachexia, Type I diabetes mellitus, Abnormal blood ion concentration,... ORPHA:37042
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Hypoalbuminemia OMIM:617303
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Decreased plasma carnitine, Decreased serum iron, Failure to thrive, Abnor... ORPHA:89842
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... OMIM:616005
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormality of retinal pigmentation,... ORPHA:14
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Immunodeficiency 21
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... OMIM:614172
Hepatocellular Carcinoma
Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypercalce... ORPHA:88673
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Hypoalbuminemia ORPHA:67
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Failure to thrive, Hypoalbuminemia OMIM:212065
Al Amyloidosis
Hypoalbuminemia, Weight loss, Increased circulating NT-proBNP concentration ORPHA:85443
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Recurrent bacterial infec... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Galloway-Mowat Syndrome 1
Small for gestational age, Optic atrophy, Hypoalbuminemia OMIM:251300
Wilson Disease
Glycosuria, Decreased circulating ceruloplasmin concentration, Increased circulating copper conce... OMIM:277900
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Chronic oral candidiasis, Recurrent bacterial infections, Recu... OMIM:606367
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Abnormality of iron homeostasis, Small for gestational age, Failure to thrive... OMIM:222470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... ORPHA:331206
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... OMIM:120200
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Chronic oral candidiasis, Recurrent bacterial infections, Meningitis, P... OMIM:308230
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:505248
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:306400
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Severe cytomegalovirus infection, Molluscum contagiosum OMIM:300291
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Unconjugated hyperbilirubinemia, Failure to thrive, Hypoglycemia, Slen... OMIM:613658
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Omenn Syndrome
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:603554
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Decreased prealbumin level, Reduced circulating transferrin concentration, H... ORPHA:90363
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia ORPHA:79396
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... OMIM:615816
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Weight loss, Hypoalbuminemia ORPHA:171
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia, El... ORPHA:99826
Juvenile Polyposis Of Infancy
Cachexia, Hypoalbuminemia ORPHA:79076
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Pgm3-Cdg
Recurrent fungal infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent infec... ORPHA:443811
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infect... OMIM:608233
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Failure to thrive, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Re... OMIM:614643
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent... OMIM:102700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respiratory t... OMIM:612541
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Chromomycosis
Recurrent bacterial infections ORPHA:182
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent streptococcal infections, Recurrent staphylococcal... ORPHA:167
Postinfectious Vasculitis
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... ORPHA:48435
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia OMIM:619381
Whim Syndrome
Recurrent pneumonia, Recurrent bacterial infections, Recurrent upper respiratory tract infections... ORPHA:51636
Biliary, Renal, Neurologic, And Skeletal Syndrome
Coloboma, Hyperbilirubinemia, Failure to thrive, Increased circulating ferritin concentration, Hy... OMIM:619534
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... ORPHA:91495
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Vici Syndrome
Chronic mucocutaneous candidiasis, Recurrent bacterial infections, Recurrent viral infections, Re... OMIM:242840
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Recurrent infections OMIM:214500
Immunodeficiency 87 And Autoimmunity
Persistent EBV viremia, Sepsis, Recurrent bacterial infections, Recurrent viral infections, Sever... OMIM:619573
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Pierson Syndrome
Retinal hemorrhage, Posterior lenticonus, Remnants of the hyaloid vascular system, Hypoproteinemi... OMIM:609049
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... ORPHA:2968
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia ORPHA:75565
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Cystic Fibrosis
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... ORPHA:586
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Recurrent viral infections, Sepsis ORPHA:811
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Pmm2-Cdg
Hyperinsulinemia, Insulin resistance, Failure to thrive, Reduced thyroxin-binding globulin, Hypoa... ORPHA:79318
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Norrie Disease
Optic atrophy, Cachexia, Failure to thrive, Diabetes mellitus, Remnants of the hyaloid vascular s... ORPHA:649
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
Microphthalmia, Syndromic 2
Retinal detachment, Iris coloboma, Decreased body weight, Remnants of the hyaloid vascular system OMIM:300166
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Holoprosencephaly 2
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma OMIM:619539
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Spinocerebellar Ataxia Type 35
ORPHA:276193
Spinocerebellar Ataxia 35
OMIM:613908

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 Tgm6

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 Tgm6.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tgm6tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Tgm6tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)