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Gene: Tmc6 MGI:1098686

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Gene Summary

Name:
transmembrane channel-like gene family 6
Synonyms:
EVER1,  D11Ertd204e

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
decreased circulating cholesterol level Tmc6tm1a(EUCOMM)Wtsi HOM Early adult 4.80×10-05
vertebral fusion Tmc6tm1a(EUCOMM)Wtsi HOM   Early adult 5.02×10-05
decreased circulating HDL cholesterol level Tmc6tm1a(EUCOMM)Wtsi HOM Early adult 1.72×10-06
decreased circulating serum albumin level Tmc6tm1a(EUCOMM)Wtsi HOM Early adult 1.81×10-05
decreased total body fat amount Tmc6tm1a(EUCOMM)Wtsi HOM Early adult 5.89×10-05

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.

X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Legacy Phenotype Associated Images
Tmc6tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Tmc6tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Tmc6tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Tmc6tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Tmc6tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI

View all 90 images

Tmc6tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Tmc6tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Tmc6tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Tmc6tm1a(EUCOMM)Wtsi
absence of digits, HOM, Female, WTSI
Tmc6tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Tmc6tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Tmc6 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 Tmc6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epidermodysplasia Verruciformis, Susceptibility To, 1
OMIM:226400
Epidermodysplasia Verruciformis
ORPHA:302

The table below shows human diseases predicted to be associated to Tmc6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Diarrhea 13
Hypoalbuminemia OMIM:620357
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flexion contractu... OMIM:618469
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed skeletal maturation, Decrea... OMIM:616834
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia, Bone pain OMIM:610539
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, Increased ... ORPHA:86816
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Kyphosis, Delayed skeletal maturation, Hypocholesterolemia, Short neck, Lipodyst... OMIM:608776
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Scoliosis, Joint hypermobility, Hypertriglyceridemia OMIM:619013
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Alg1-Cdg
Hypoalbuminemia, Scoliosis, Limitation of joint mobility, Kyphosis ORPHA:79327
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles te... OMIM:606612
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Scoliosis, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Scoliosis ORPHA:79320
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow flexion contracture... OMIM:178110
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles tendon contracture, V... OMIM:607155
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Delayed skeletal maturation OMIM:618347
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum... ORPHA:2345
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Immunodeficiency 27A
Hypoalbuminemia, Salmonella osteomyelitis OMIM:209950
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Short neck, Camptodactyly OMIM:608104
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental enamel morphology, Hypo... ORPHA:2916
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Decreased LDL cholester... OMIM:618156
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Knee pain OMIM:614441
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Osteoporosis OMIM:266510
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis ORPHA:313892
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Rickets OMIM:607765
Potocki-Lupski Syndrome
Hypocholesterolemia, Scoliosis OMIM:610883
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated cir... ORPHA:158061
Kbg Syndrome
Persistent open anterior fontanelle, Delayed skeletal maturation, Short neck, Vertebral fusion, S... ORPHA:2332
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... OMIM:613686
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... OMIM:312150
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Osteopenia, Atypical scarring of skin, Umbilical hernia, Knee dislocation, Atrophic s... OMIM:618000
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Aarskog-Scott Syndrome
Genu recurvatum, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Joint hypermobility,... ORPHA:915
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Verheij Syndrome
Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation OMIM:615583
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... OMIM:253290
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Hypocholesterolemia, Abnormal subcutaneous fat tissue distribution, ... OMIM:212065
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Leishmaniasis
Hypoalbuminemia ORPHA:507
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjugated hyperbilir... OMIM:617093
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Flexion contracture ORPHA:367
Xfe Progeroid Syndrome
Hypoalbuminemia, Corneal scarring, Absence of subcutaneous fat, Enamel hypoplasia, Scoliosis OMIM:610965
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Generalized Pustular Psoriasis
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c... ORPHA:247353
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos... OMIM:272460
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... OMIM:616549
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea OMIM:602579
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification, Camptodactyly, Ab... ORPHA:79324
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Osteomyeli... ORPHA:36234
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli... ORPHA:14
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... OMIM:305620
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... ORPHA:89842
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Sclerosis of skull base, Inguinal hernia, Biconcave vertebral bodies, ... OMIM:130720
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Delayed skeletal matura... OMIM:235510
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Flexion contracture, Acetabular dysplasia, Short neck OMIM:617303
Refractory Anemia With Excess Blasts
Bone pain, Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Joint swelling, Elevated circulating C-reactive protein concentration,... OMIM:612852
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short neck, Hemivertebrae, Vertebral f... OMIM:271520
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Sho... OMIM:265000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Scoliosis, Elevated circulating creatine kinase concentration OMIM:619055
Koolen-De Vries Syndrome
Kyphosis, Abnormal dental enamel morphology, Vertebral segmentation defect, Joint hypermobility, ... ORPHA:96169
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly, Hiatus hernia, Hip dislocation OMIM:617729
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Joint stiffness, Lumbar hyperlordosis, Hernia, Lumbar kyphosis, Short neck, Flex... ORPHA:505248
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac... OMIM:150250
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Osteoporosis, Scoliosis OMIM:619487
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... OMIM:151200
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility OMIM:617333
Selective Igm Deficiency
Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi... ORPHA:331235
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Camptodactyly, Hiatus hernia OMIM:251300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Osteomyelitis, Hypocalcemia, Decreased circulating prealbumin co... ORPHA:37042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Atrophic scars, Scarring, Enamel hypoplasia, Craniosynostosis ORPHA:79396
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Joint hypermobility, Vertebral fusion, Scoliosis, Hip dislocation, S... OMIM:610443
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Wilson Disease
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Osteomalacia, Hyperbilirubinemia, Increased cir... OMIM:277900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Delayed skeletal maturation, Inguinal hernia, Hypocalcemia,... OMIM:613658
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Avascular necrosis... OMIM:222470
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormal circulat... ORPHA:2298
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Ve... ORPHA:1724
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Inguinal hernia, Joint hypermobility, Short neck, Beaking of vertebral bodies, Vertebral fusion, ... OMIM:213980
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Delayed skeletal maturation, Umbilical hernia, Delayed cranial suture closure... OMIM:268310
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodactyly of finger, Omphal... ORPHA:90652
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Congenital hip dislocation, Ovoid vertebral bodies OMIM:244450
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Hemivertebrae, Vertebral fusion, Scoliosis ORPHA:377
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Frontometaphyseal Dysplasia
Joint contracture of the hand, Keloids, Interphalangeal joint contracture of finger, Camptodactyl... ORPHA:1826
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Basal Cell Nevus Syndrome 1
Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral... OMIM:109400
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Kyphosis OMIM:617190
Dubowitz Syndrome
Sacral dimple, Hypocholesterolemia, Inguinal hernia, Delayed skeletal maturation OMIM:223370
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion OMIM:617796
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Epiphyseal stippling, Elevated circulating 7-dehydrocholest... OMIM:270400
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hip dislocation, ... ORPHA:3320
Kbg Syndrome
Delayed skeletal maturation, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenita... ORPHA:373
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Joint swelling, Arthritis, Elevated circulating C-r... OMIM:619381
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Osteoporosis ORPHA:171
Microphthalmia, Syndromic 3
Vertebral fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia OMIM:206900
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, Vertebral fusion, Hyperextensible hand joints, Inguinal hernia OMIM:227330
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Enlarged vertebral pedicles, Joint stiffness, Short ... OMIM:139210
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Hiatus hernia, Hemivertebrae, Lipoma, Scoliosis OMIM:304050
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Congenital diaphragmatic hernia, Hemivertebrae ORPHA:1780
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... ORPHA:268882
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Hiatus hernia, Multiple lipomas, Scoliosis ORPHA:50
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Abnormal ... ORPHA:233
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Flat acetabular roof, Fused cervical vertebrae OMIM:617159
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia ORPHA:2331
Atelosteogenesis, Type I
Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Short neck, Vertebral hypoplasia, Co... OMIM:108720
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic kyphosis, Generalized j... ORPHA:508498
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Synostosi... OMIM:101200
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Knee dislocation, Elev... OMIM:619534
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Keloids, Elbow contracture, Hip contracture, Camptodactyly, Dislocate... OMIM:617137
Duane-Radial Ray Syndrome
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae OMIM:607323
Robinow Syndrome
Umbilical hernia, Kyphoscoliosis, Hemivertebrae, Fused thoracic vertebrae, Scoliosis ORPHA:97360
Wolf-Hirschhorn Syndrome
Hip dislocation, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Radioulnar s... OMIM:194190
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Cardiospondylocarpofacial Syndrome
Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossicles, Congenital diaphra... OMIM:157800
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Omphalocele OMIM:306955
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Patellar aplasia, Carpal bone hypoplasia, Genu varum, Patellar dislocation, Hi... OMIM:274000
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Platyspondyly, Multiple joint contractures, Reduced thyroxin-binding... ORPHA:79318
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... ORPHA:3261
Chromosome 16P13.3 Duplication Syndrome
Cervical C5/C6 vertebrae fusion, Inguinal hernia, Short neck, Camptodactyly, Tracheobronchomalaci... OMIM:613458
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, Inguina... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, Wormian bones, Hi... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia 1
Block vertebrae, Genu valgum, Hemivertebrae, Scoliosis, Vertebral hypoplasia OMIM:164210
Holt-Oram Syndrome
Elbow dislocation, Limited elbow extension, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ... OMIM:142900
Epidermodysplasia Verruciformis
ORPHA:302
Epidermodysplasia Verruciformis, Susceptibility To, 1
OMIM:226400

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 Tmc6

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 Tmc6.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tmc6tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tmc6tm1a(EUCOMM)Wtsi PMC6459510
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Tmc6tm1a(EUCOMM)Wtsi PMC3996542

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tmc6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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