Gene Summary

Name:
TNF receptor-associated factor 7
Synonyms:
RFWD1

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
preweaning lethality, complete penetrance Traf7em1(IMPC)Tcp HOM   Early adult 0.00
enlarged lymph nodes Traf7em1(IMPC)Tcp HET Early adult 0.00
cataract Traf7em1(IMPC)Tcp HET   Early adult 7.10×10-06
embryonic lethality prior to tooth bud stage Traf7em1(IMPC)Tcp HOM   E12.5 0.00
abnormal lens morphology Traf7em1(IMPC)Tcp HET Early adult 1.03×10-05
increased circulating bilirubin level Traf7em1(IMPC)Tcp HET Early adult 2.58×10-05
prenatal lethality prior to heart atrial septation Traf7em1(IMPC)Tcp HOM   E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

120 Images

Eye Morphology

Images Ophthalmoscopy

84 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Gross Pathology and Tissue Collection

Images

8 Images

Human diseases caused by Traf7 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 Traf7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Meningioma
ORPHA:2495
Cardiac, Facial, And Digital Anomalies With Developmental Delay
OMIM:618164

The table below shows human diseases predicted to be associated to Traf7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Rotor Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Retinoschisis
Cataract ORPHA:792
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Splenomegaly OMIM:237800
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Cataract 47
Cataract, Microcornea OMIM:612018
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Nathalie Syndrome
Cataract OMIM:255990
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:616278
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 11, Multiple Types
Cataract OMIM:610623
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... ORPHA:766
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Retinitis Pigmentosa 84
Cataract OMIM:618220
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Cardiomyopathy, Dilated, 1Ii
Elevated circulating creatine kinase concentration, Cataract OMIM:615184
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 31
Hyperalaninemia, Cataract OMIM:617228
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration, Lymphadenopathy, Splenomegaly ORPHA:79292
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Splenomegaly OMIM:618892
Retinitis Pigmentosa 40
Cataract OMIM:613801
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly OMIM:185000
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Pellagra-Like Syndrome
Cataract OMIM:260650
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly, Conjugated hyperb... OMIM:616860
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly OMIM:269920
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Congenital Varicella Syndrome
Cataract ORPHA:291
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract OMIM:613154
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia, Splenomegaly OMIM:616689
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract OMIM:120433
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Peroxisome Biogenesis Disorder 9B
Cataract, Elevated levels of phytanic acid OMIM:614879
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Splenomegaly OMIM:109270
Retinitis Pigmentosa 9
Cataract OMIM:180104
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hypocalcemic seizures, Hyperphosphatemia OMIM:146200
Hepatoportal Sclerosis
Splenomegaly, Hyperbilirubinemia, Hypersplenism, Hypoalbuminemia ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529799
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Cataract, Zonular cataract ORPHA:168577
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Splenomegaly OMIM:266200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Band keratopathy, Cataract, Hyperamylasemia OMIM:604278
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia ORPHA:79303
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, ... OMIM:603553
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly ORPHA:288
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron ORPHA:98870
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Sickle Cell Anemia
Elevated circulating creatinine concentration, Abnormality of the spleen, Unconjugated hyperbilir... ORPHA:232
Achromatopsia 3
Cataract OMIM:262300
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Reduced ha... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Splenomegaly, Abnormal blood potassium concentratio... ORPHA:3202
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Cataract ORPHA:414
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia OMIM:613280
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Galactokinase Deficiency
Nuclear cataract, Increased level of galactitol in plasma, Hepatosplenomegaly, Hypergalactosemia,... ORPHA:79237
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia, Sple... OMIM:300908
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Mydriasis OMIM:259720
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Lathosterolosis
Hyperbilirubinemia, Hepatosplenomegaly, Opacification of the corneal stroma, Abnormal circulating... OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Hyperkalemia, Splenomegaly OMIM:608885
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Splenomegaly OMIM:224120
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Hyperbilirubinemia ORPHA:39812
Rh Deficiency Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Glycogen Storage Disease Xii
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Reduced haptoglobin level... OMIM:611881
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Abetalipoproteinemia
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Decrea... ORPHA:14
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Hypouricemia, Hypoa... OMIM:277900
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... ORPHA:3008
Hereditary Spherocytosis
Hyperbilirubinemia, Splenomegaly ORPHA:822
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Cystic Echinococcosis
Splenic cyst, Hyperbilirubinemia ORPHA:400
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Caroli Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypersplenism ORPHA:480520
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Familial Isolated Hypoparathyroidism
Hypocalcemia, Cataract ORPHA:2238
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Caroli Disease
Conjunctival icterus, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:53035
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbili... ORPHA:567983
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Increased circulating inosine concentration, Increased circulating guanosine concen... OMIM:613179
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, Hyperbilirubinemia OMIM:557000
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Developmental cataract ORPHA:163956
Congenital Erythropoietic Porphyria
Corneal ulceration, Splenomegaly, Increased erythrocyte protoporphyrin concentration, Keratoconju... ORPHA:79277
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Iris coloboma, Juvenile cataract, Cataract, Hyperbilirubinemia OMIM:619475
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Cranioectodermal Dysplasia 2
Polysplenia, Hyperbilirubinemia, Splenomegaly OMIM:613610
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly ORPHA:84081
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Hardikar Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly OMIM:301068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin level OMIM:218700
Degcags Syndrome
Abnormal spleen morphology, Hyperbilirubinemia, Hepatosplenomegaly OMIM:619488
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Band keratopathy, Keratoconjunctivitis, Cataract, Asplenia OMIM:269200
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Unconjugated hyperbilirubinemia OMIM:618278
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Decreased serum iron, Conjunctival icterus, Unconjugated hyperbili... ORPHA:447
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Meningioma
ORPHA:2495
Cardiac, Facial, And Digital Anomalies With Developmental Delay
OMIM:618164

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 Traf7

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 Traf7.

No publications found that use IMPC mice or data for Traf7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Traf7em1(IMPC)Tcp Exon Deletion Mice
Traf7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Traf7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter