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
cataract Traf7em1(IMPC)Tcp HET Early adult 6.01×10-07
preweaning lethality, complete penetrance Traf7em1(IMPC)Tcp HOM   Early adult 0.00
abnormal retina morphology Traf7em1(IMPC)Tcp HET   Early adult 2.24×10-05
abnormal lens morphology Traf7em1(IMPC)Tcp HET Early adult 2.34×10-05
prenatal lethality prior to heart atrial septation Traf7em1(IMPC)Tcp HOM   E15.5 0.00
embryonic lethality prior to tooth bud stage Traf7em1(IMPC)Tcp HOM   E12.5 0.00
enlarged lymph nodes Traf7em1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

Images Slit Lamp

120 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

4 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

Eye Morphology

Images Ophthalmoscopy

84 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 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
Papilledema ORPHA:2495
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy OMIM:618164

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
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
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Nathalie Syndrome
Cataract ORPHA:2663
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme... OMIM:613310
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Galactosemia Ii
Cataract OMIM:230200
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Galactosemia Iv
Cataract OMIM:618881
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d... OMIM:616188
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Cataract 47
Cataract, Microcornea OMIM:612018
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract OMIM:255990
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Proximal Myotonic Myopathy
Cataract ORPHA:606
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy OMIM:267760
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract, Retinal dystrophy OMIM:613763
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon... OMIM:613810
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... OMIM:604229
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Aniridia 3
Cataract, Aniridia OMIM:617142
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Cataract 48
Cataract OMIM:618415
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Autosomal Recessive Stickler Syndrome
Cataract, Retinal detachment, Vitreoretinopathy, Astigmatism ORPHA:250984
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Congenital Varicella Syndrome
Cataract ORPHA:291
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu... ORPHA:91495
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Corneal opacity ORPHA:79292
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Stickler Syndrome Type 1
Cataract, Abnormal vitreous humor morphology, Retinal detachment ORPHA:90653
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Hypopyon, Macular edema, Posterior synechiae of the anterior cha... ORPHA:209959
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho... ORPHA:1571
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Reti... ORPHA:2969
Microphthalmia, Syndromic 5
Cataract, Microcornea, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Amyloidosis, Finnish Type
Cataract, Optic neuropathy, Lattice corneal dystrophy OMIM:105120
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Sclerocorne... OMIM:243605
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... OMIM:101000
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Keratoconjunctivitis, Asplenia OMIM:269200
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Agammaglobulinemia, X-Linked
Conjunctivitis, Lymph node hypoplasia OMIM:300755
Meningioma
Papilledema ORPHA:2495
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy 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.

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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