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Gene: Gdi2 MGI:99845

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Gene Summary

Name:
GDP dissociation inhibitor 2
Synonyms:
Gdi3,  GDIB,  GDI beta,  GDI-B

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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 Gdi2tm1b(EUCOMM)Hmgu HET   Early adult 2.19×10-06
abnormal retina morphology Gdi2tm1b(EUCOMM)Hmgu HET Early adult 8.12×10-06
preweaning lethality, complete penetrance Gdi2tm1b(EUCOMM)Hmgu HOM   Early adult 2.38×10-05
impaired glucose tolerance Gdi2tm1b(EUCOMM)Hmgu HET Early adult 3.11×10-05
abnormal retina vasculature morphology Gdi2tm1b(EUCOMM)Hmgu HET   Early adult 8.82×10-05
cataract Gdi2tm1b(EUCOMM)Hmgu HET   Early adult 7.88×10-06

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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.

Electrocardiogram (ECG)

Waveform Image

26 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Human diseases caused by Gdi2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gdi2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Cataract 42
Cataract, Developmental cataract OMIM:115900
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Trichomegaly
Cataract OMIM:190330
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... OMIM:613310
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Developmental glaucoma, Developmental cataract, Type II diabetes mell... OMIM:147630
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Galactosemia Iv
Cataract OMIM:618881
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Galactosemia Ii
Cataract OMIM:230200
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration OMIM:267760
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Type II diabetes mellitus, Macular dystrophy, Retino... ORPHA:225
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Nathalie Syndrome
Cataract OMIM:255990
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract OMIM:613763
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Rod-cone dystrophy... OMIM:615986
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract ORPHA:324416
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... OMIM:300424
Proximal Myotonic Myopathy
Cataract ORPHA:606
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism ORPHA:250984
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Hemochromatosis, Type 4
Diabetes mellitus, Cataract, Impaired glucose tolerance, Glucose intolerance OMIM:606069
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:614307
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
3-Methylglutaconic Aciduria Type 4
Cataract, Hypoglycemia, Iris hypopigmentation ORPHA:67048
Pellagra-Like Syndrome
Cataract OMIM:260650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Glycosuria, ... OMIM:268315
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Congenital Varicella Syndrome
Cataract ORPHA:291
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Cataract 48
Cataract OMIM:618415
Aniridia 3
Aniridia, Cataract OMIM:617142
Achondrogenesis Type 2
Retinal detachment, Cataract, Lens subluxation, Abnormal vitreous humor morphology ORPHA:93296
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract OMIM:612674
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... ORPHA:290
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con... OMIM:609033
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Cataract OMIM:601811
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cataract OMIM:619780
Phacoanaphylactic Uveitis
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... ORPHA:209959
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract OMIM:614879
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Antiphospholipid Syndrome, Familial
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... OMIM:107320
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Glucose intolerance, D... ORPHA:552
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Wolfram Syndrome 1
Pigmentary retinopathy, Diabetes mellitus, Cataract, Optic atrophy OMIM:222300
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cataract, Type II diabetes mellitus ORPHA:79095
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma ORPHA:2791
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Microphthalmia, Syndromic 5
Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Werner Syndrome
Diabetes mellitus, Cataract, Retinal degeneration OMIM:277700
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649

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 Gdi2

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 Gdi2.

No publications found that use IMPC mice or data for Gdi2.

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
Gdi2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Gdi2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gdi2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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