Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
interphotoreceptor matrix proteoglycan 2
Synonyms:
PG10.2,  IPM200,  Spacrcan

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Impg2 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 Impg2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Impg2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Increased extraneuronal autoflu... OMIM:204500
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... OMIM:608161
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degeneration, Optic disc ... OMIM:618195
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Senile plaques, Abnormal lower motor neuron morphology, ... ORPHA:100070
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... OMIM:613750
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Optic atr... OMIM:256730
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity OMIM:608895
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Nephronophthisis 14
Retinal degeneration OMIM:614844
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:610127
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:613660
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:256731
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Atrophy/Degeneration involving the caudate nucleus, Optic atrophy, Basal ganglia gl... ORPHA:225154
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Cerebral cortical atrophy, Neuronal loss in central nervous system OMIM:600795
Oguchi Disease
Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness ORPHA:75382
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Increased neuronal autoflu... OMIM:204200
Nephronophthisis 15
Retinal degeneration OMIM:614845
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Bardet-Biedl Syndrome 21
Retinal atrophy, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macular lesion, ... OMIM:617406
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Cerebral atrophy, Neuronal loss in central nervous system, Gliosis ORPHA:204
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:252650
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy ORPHA:275864
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Retinal degeneration OMIM:300438
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Global brain atrophy, Senile plaques, Abnormal autonomic nervous system physiology,... ORPHA:282166
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy, Macular degeneration... OMIM:604360
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Retinal degeneration OMIM:615994
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal thinning, Retinal dystrophy OMIM:615960
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:618329
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment ORPHA:99000
Scheie Syndrome
Retinal degeneration OMIM:607016
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Sjögren-Larsson Syndrome
Macular degeneration, Abnormality of retinal pigmentation, Retinopathy ORPHA:816
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular hyper... OMIM:120970
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Cone-Rod Dystrophy 10
Cone/cone-rod dystrophy, Macular degeneration, Rod-cone dystrophy OMIM:610283
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Retinal degeneration, Br... OMIM:619260
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy, Optic disc pa... ORPHA:79264
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Macular degeneration, Choroidal neovascularization ORPHA:404451
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Hsd10 Disease, Infantile Type
Cerebral atrophy, Neurodegeneration, Retinal degeneration, Frontotemporal cerebral atrophy, Optic... ORPHA:391428
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Macular dystrophy OMIM:616152
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Papillorenal Syndrome
Gliosis, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Macular hyperpigmentatio... OMIM:120330
Aceruloplasminemia
Retinal degeneration OMIM:604290
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Retinopathy, Retinal degeneration OMIM:239000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... OMIM:616959
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Werner Syndrome
Retinal degeneration OMIM:277700
Non-Specific Early-Onset Epileptic Encephalopathy
Brain atrophy, Optic atrophy, Retinal degeneration, Cerebral atrophy ORPHA:442835
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Cerebellar atrophy, Cerebral cortical neurodegeneration, Neuronal loss in ... OMIM:203700
Cockayne Syndrome Type 3
Astrocytosis, Retinal atrophy, Retinal degeneration, Retinal dystrophy, Brain atrophy, Abnormalit... ORPHA:90324
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration OMIM:610688
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy, Retinal degeneration ORPHA:168491
Mannosidosis, Alpha B, Lysosomal
Gliosis, Corpus callosum atrophy, Retinal degeneration, Cerebral cortical atrophy, Cerebellar atr... OMIM:248500
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormal retinal nerve fiber layer morphology, Abnormality of visual evoked potent... ORPHA:1215
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Oculocutaneous Albinism Type 1
Abnormal morphology of the choroidal vasculature, Depigmented fundus, Optic nerve misrouting, Hyp... ORPHA:352731
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration ORPHA:48818
Nephronophthisis 11
Retinal degeneration OMIM:613550
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy, Cerebellar atrophy ORPHA:412057
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Pontocerebellar atrophy, Facial palsy ORPHA:258
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Retinal flecks, Pallidal degeneration, Retinal degeneration, Optic atroph... ORPHA:157850
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Rod-cone dystrophy, Retinal degeneration, Retinal dystrophy OMIM:209900
Pseudoxanthoma Elasticum
Optic disc drusen, Retinal peau d'orange, Choroidal neovascularization, Retinal hemorrhage, Angio... OMIM:264800
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy OMIM:601777
Autosomal Recessive Spastic Paraplegia Type 11
Frontal cortical atrophy, Orthostatic hypotension, Atrophy of the spinal cord, Retinal degenerati... ORPHA:2822
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Pigmentary retinopathy, Retinal degeneration ORPHA:99
Senior-Loken Syndrome 8
Macular atrophy OMIM:616307
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Macular degeneration, Retinal hemorrhage OMIM:177850
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Cerebral atrophy, Atrophy of the spinal cord, Retinal degeneration, Abnor... ORPHA:79282
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous system physio... ORPHA:247234
Kniest Dysplasia
Lattice retinal degeneration, Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, ... ORPHA:485
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis ORPHA:309854
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degeneration, Cerebral d... OMIM:234200
Cancer-Associated Retinopathy
Vitritis, Retinal atrophy, Diffuse cerebellar atrophy, Retinal pigment epithelial atrophy, Granul... ORPHA:71505
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fundus morphology, Macula... ORPHA:94147
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Hypoplasia of the fovea, Abnormality of visual evoked potentials,... ORPHA:79431
Trichothiodystrophy
Cerebral cortical atrophy, Macular degeneration, Diffuse cerebellar atrophy, Retinal degeneration ORPHA:33364
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Gliosis, Pigmentary retinopathy, Cerebral a... ORPHA:191
Knobloch Syndrome
Vitreoretinopathy, Abnormal vitreous humor morphology, Macular degeneration, Retinal detachment ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Optic atrophy OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Retinal degeneration, Retinal dysplasia, Hypoplasia of the retina, Optic atrophy OMIM:253280
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Retinal degeneratio... ORPHA:580
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Retinal degeneration, Central nervous system degeneration, Optic atrophy,... ORPHA:581
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Farber Disease
Cherry red spot of the macula, Macular degeneration, Brain atrophy ORPHA:333
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy ORPHA:97297
Say-Barber-Miller Syndrome
Optic atrophy, Macular degeneration, Rod-cone dystrophy ORPHA:3132
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Choroideremia, Optic atrophy, Reti... ORPHA:1435
Non-Specific Syndromic Intellectual Disability
Retinal atrophy, Papilledema, Frontal cortical atrophy ORPHA:528084
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Alström Syndrome
Retinal pigment epithelial atrophy, Retinal dystrophy, Cone/cone-rod dystrophy, Drusen, Optic dis... ORPHA:64

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 Impg2

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 Impg2.

No publications found that use IMPC mice or data for Impg2.

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MGI Allele Allele Type Produced
Impg2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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