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Gene: Traf7 MGI:3042141

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Gene Summary

Name:
TNF receptor-associated factor 7
Synonyms:
RFWD1

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
abnormal lens morphology Traf7em1(IMPC)Tcp HET Early adult 1.07×10-05
increased circulating bilirubin level Traf7em1(IMPC)Tcp HET Early adult 2.64×10-05
preweaning lethality, complete penetrance Traf7em1(IMPC)Tcp HOM   Early adult 0.00
enlarged lymph nodes Traf7em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Traf7em1(IMPC)Tcp HOM   E12.5 0.00
prenatal lethality prior to heart atrial septation Traf7em1(IMPC)Tcp HOM   E15.5 0.00
cataract Traf7em1(IMPC)Tcp HET   Early adult 8.17×10-06

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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 Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

120 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

84 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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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
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 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... 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
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:3111
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
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
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Splenomegaly OMIM:237800
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Increased circulating ferritin concentration, Nuclear cataract OMIM:600886
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 47
Cataract, Microcornea OMIM:612018
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract OMIM:255990
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacit... OMIM:616278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Cataract, Increased circulating ferritin concentration, Elevat... ORPHA:254704
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circula... ORPHA:766
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Cataract 17, Multiple Types
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea OMIM:611544
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Retinitis Pigmentosa 40
Cataract OMIM:613801
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Hyperalaninemia OMIM:617228
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c... OMIM:604307
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Harderoporphyria
Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration OMIM:618892
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia OMIM:616299
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly OMIM:185000
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Increased circulating ferritin concentration, Elevated hepatic iron concentra... OMIM:616860
Pellagra-Like Syndrome
Cataract OMIM:260650
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hyperbilirubinemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Elevated ci... ORPHA:158057
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Infantile Sialic Acid Storage Disease
Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Lymphadenopathy, Increased L... OMIM:267700
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Cataract 48
Cataract OMIM:618415
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Cataract, Nuclear cataract, Splenomegaly, Conjugated hyperbilirubinemia OMIM:608885
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia, Splenomegaly OMIM:616689
Retinitis Pigmentosa 9
Cataract OMIM:180104
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon ORPHA:1473
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Peroxisome Biogenesis Disorder 9B
Cataract, Elevated circulating phytanic acid concentration OMIM:614879
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia ORPHA:64743
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... ORPHA:529799
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration OMIM:614300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin co... OMIM:603553
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract, Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Splenomegaly, Unconjugated hyperbilirubinemia OMIM:266200
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Posterior embryotoxon, Conjugated... OMIM:614887
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia, Splenomegaly ORPHA:288
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Hyperornithinemia ORPHA:414
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron ORPHA:98870
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... OMIM:608836
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Abnormality of th... ORPHA:232
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Hepatosplenomegal... OMIM:613673
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly, Cataract, Nuclear... ORPHA:79237
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Splenomegaly OMIM:613812
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Abnormal blood potassium concentration, Increased circulating ferritin... ORPHA:3202
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood, Sple... OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Cataract 16, Multiple Types
Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hyperbilirubinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly OMIM:259720
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Graft Versus Host Disease
Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia ORPHA:1667
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... OMIM:617156
Lathosterolosis
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Hepatosplenomegaly, Cataract,... OMIM:607330
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Splenomegaly OMIM:224120
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:71275
Glycogen Storage Disease Xii
Reduced haptoglobin level, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine kinase... OMIM:611881
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Keratoconjunctivitis sicca, Abnormal... ORPHA:14
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Wilson Disease
Decreased circulating ceruloplasmin concentration, Increased circulating copper concentration, Hy... OMIM:277900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Elevated circulating phytanic acid concentration, Increased circulating very lo... OMIM:614866
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... ORPHA:3008
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Hereditary Spherocytosis
Hyperbilirubinemia, Splenomegaly ORPHA:822
Cystic Echinococcosis
Splenic cyst, Hyperbilirubinemia ORPHA:400
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Cataract, Iris coloboma, Buphthalmos OMIM:212550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... OMIM:602450
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:480520
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Caroli Disease
Conjunctival icterus, Abnormal circulating alpha-fetoprotein concentration, Splenomegaly, Conjuga... ORPHA:53035
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili... ORPHA:567983
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Increased circulating guanosine concentration, Lymph... OMIM:613179
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Ifap Syndrome 2
Keratitis, Cataract, Keratoconjunctivitis sicca OMIM:619016
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, Punctate keratitis OMIM:557000
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Keratoconjunctivitis, Un... ORPHA:79277
Reynolds Syndrome
Hyperbilirubinemia, Splenomegaly, Calcinosis OMIM:613471
Isolated Biliary Atresia
Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Developmental cataract ORPHA:163956
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Iris coloboma, Juvenile cataract, Hyperbilirubinemia, Cataract OMIM:619475
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Cranioectodermal Dysplasia 2
Polysplenia, Hyperbilirubinemia, Splenomegaly OMIM:613610
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia OMIM:229600
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly ORPHA:84081
Hardikar Syndrome
Hypersplenism, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly OMIM:301068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Keratoconjunctivitis, Cataract, Band keratopathy OMIM:269200
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Degcags Syndrome
Abnormal spleen morphology, Hyperbilirubinemia, Hepatosplenomegaly OMIM:619488
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... OMIM:619991
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Hepatosplenomegaly OMIM:618278
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Conjunctival icterus, Decreased serum... ORPHA:447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Agammaglobulinemia, X-Linked
Conjunctivitis, Lymph node hypoplasia OMIM:300755
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
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.

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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

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