Gene Summary

Name:
transglutaminase 6
Synonyms:
TGM3L

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating serum albumin level Tgm6tm1a(KOMP)Wtsi HOM Early adult 9.82×10-05
persistence of hyaloid vascular system Tgm6tm1a(KOMP)Wtsi HOM   Early adult 9.55×10-05
improved glucose tolerance Tgm6tm1a(KOMP)Wtsi HOM Early adult 6.02×10-05
increased lean body mass Tgm6tm1a(KOMP)Wtsi HOM Early adult 5.54×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

X-ray

XRay Images Forepaw

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

1 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Legacy Phenotype Associated Images

View all 76 images

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 infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
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
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan 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 staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Tuftsin Deficiency
Recurrent infections OMIM:191150
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
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
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... OMIM:613501
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Immunodeficiency 32A
Recurrent infections OMIM:614893
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Frequen... OMIM:300310
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... OMIM:612692
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... OMIM:613502
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections OMIM:617014
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:617156
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL chole... OMIM:246700
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... OMIM:613493
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
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
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent enteroviral infections, Recurre... OMIM:601495
Alg6-Cdg
Decreased LDL cholesterol concentration, Retinal degeneration, Failure to thrive, Hypoalbuminemia ORPHA:79320
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Infectious encephalitis, Recurrent protozoan infections, Recurren... OMIM:209920
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, C... ORPHA:275
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Increased circulating ferritin concentration, Elevated circulating C-reactive ... OMIM:616050
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Meningitis, Recurre... OMIM:240500
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Helicobacter p... ORPHA:2688
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... ORPHA:86816
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Hypoalbuminemia OMIM:608104
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, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... ORPHA:83471
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... OMIM:607594
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Eosinophilic Gastroenteritis
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Chr... ORPHA:276
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... ORPHA:88618
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent prot... ORPHA:572
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Decreased body weight, Neonata... ORPHA:1667
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Hypoglycemia, Failure to thrive, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:233710
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... OMIM:116920
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Pulmonary tuberculosis, Recurrent herpes, Recurrent otiti... ORPHA:183675
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia OMIM:617475
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... OMIM:306400
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia ORPHA:367
Immunodeficiency 36
Recurrent bacterial infections, Recurrent respiratory infections OMIM:616005
Aicardi-Goutieres Syndrome 9
Failure to thrive, Optic atrophy, Weight loss, Hypoalbuminemia OMIM:619487
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... ORPHA:86839
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Hypoalbuminemia OMIM:617303
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Hypocalcemia, Hypomagnesemia,... ORPHA:37042
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Failure to thrive, Recurrent hypoglycemia, Retinal detachment,... ORPHA:79324
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Hypocholesterolemia... ORPHA:14
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... ORPHA:486
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Failure to thrive, Hypoalbuminemia OMIM:212065
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Failure to thrive, Decreased serum iron, Abnormal circulating selenium conc... ORPHA:89842
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Hypoalbuminemia ORPHA:67
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, Weight loss, H... ORPHA:88673
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Al Amyloidosis
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia ORPHA:85443
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Small for gestational age, Failure to thri... OMIM:222470
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, R... OMIM:613179
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Galloway-Mowat Syndrome 1
Optic atrophy, Small for gestational age, Hypoalbuminemia OMIM:251300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Severe varicella zoster infection, Recurrent fungal infections, C... OMIM:606367
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection OMIM:300291
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Hypoalbuminemia ORPHA:505248
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... ORPHA:331206
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... ORPHA:90363
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia ORPHA:79396
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failur... OMIM:613658
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Primary Sclerosing Cholangitis
Weight loss, Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Meningitis, Recurrent lower respiratory tract infections OMIM:308230
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase concentration, E... ORPHA:99826
Immunodeficiency 23
Severe varicella zoster infection, Chronic mucocutaneous candidiasis, Recurrent staphylococcal in... OMIM:615816
Juvenile Polyposis Of Infancy
Cachexia, Hypoalbuminemia ORPHA:79076
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Chronic ... OMIM:242840
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Pgm3-Cdg
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:443811
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Recurrent ear infections, Recurrent fungal infections, Chronic or... ORPHA:221139
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Recurrent absce... OMIM:608233
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Recurrent respiratory infections OMIM:612541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Re... OMIM:614643
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Chromomycosis
Recurrent bacterial infections ORPHA:182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:102700
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Severe cytomegalovi... ORPHA:48435
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent bacterial skin infections, Recurr... ORPHA:167
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholes... OMIM:619534
Whim Syndrome
Recurrent bacterial infections, Sepsis, Meningitis, Recurrent upper respiratory tract infections,... ORPHA:51636
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial infections ORPHA:244
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... ORPHA:91495
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections OMIM:214500
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Immunodeficiency 82 With Systemic Inflammation
Weight loss, Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... OMIM:619573
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid... ORPHA:2968
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma OMIM:221900
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia ORPHA:75565
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Recurrent viral infections ORPHA:811
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Pmm2-Cdg
Insulin resistance, Failure to thrive, Reduced thyroxin-binding globulin, Hypoalbuminemia, Hyperi... ORPHA:79318
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Norrie Disease
Optic atrophy, Cachexia, Ectopia lentis, Failure to thrive, Retinal detachment, Diabetes mellitus... ORPHA:649
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Decreased body weight, Iris coloboma OMIM:300166
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma OMIM:619539
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Spinocerebellar Ataxia 35
OMIM:613908
Spinocerebellar Ataxia Type 35
ORPHA:276193

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)