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Gene: Rock2 MGI:107926

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Rho-associated coiled-coil containing protein kinase 2
Synonyms:
B230113H15Rik,  Rho-kinase,  Rock2m,  Rock-II,  ROKalpha

Order Alleles

IMPC Data Collections

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

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.

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 Rock2 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 Rock2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Ocular hypertension, C... ORPHA:94058
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... OMIM:610947
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Irvan Syndrome
Ocular hypertension, Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractio... ORPHA:209943
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Ocular hypertension OMIM:613517
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Macrophthalmia, Colobomatous, With Microcornea
Ocular hypertension, Microcornea, Macular atrophy OMIM:602499
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Glaucoma 1, Open Angle, F
Ocular hypertension, Increased cup-to-disc ratio OMIM:603383
Morm Syndrome
Truncal obesity, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Exfoliation Syndrome
Lens subluxation, Anisocoria, Asymmetry of intraocular pressure, Mydriasis, Cataract, Phakodonesi... OMIM:177650
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Obesity, ... OMIM:616188
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... ORPHA:90050
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis, Ocular hypertension OMIM:613195
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... OMIM:615990
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration, Small for gestational age OMIM:275400
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Microcornea, Retinal dystrophy, Iris coloboma OMIM:615147
Late-Onset Retinal Degeneration
Macular degeneration, Ocular hypertension, Patchy atrophy of the retinal pigment epithelium, Chor... ORPHA:67042
Uveal Melanoma
Inferior lens subluxation, Vitreous hemorrhage, Iris melanoma, Zonular cataract, Ocular hypertens... ORPHA:39044
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyo... OMIM:204200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Bardet-Biedl Syndrome 16
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615993
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Idiopathic Panuveitis
Red eye, Cystoid macular edema, Ocular hypertension, Epiretinal membrane, Vitreous floaters, Chor... ORPHA:280921
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia OMIM:617173
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Hypertriglyceridemia, Myocardial infarction, Hypercholesterolemia, Ins... OMIM:615703
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Weill-Marchesani Syndrome 3
Microspherophakia, Aortic valve stenosis, Ocular hypertension, Pulmonic stenosis, Ectopia lentis OMIM:614819
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... OMIM:604393
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy OMIM:250450
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Ocular hypertension, Temporal optic disc pallor, R... ORPHA:98977
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Glaucoma, Primary Closed-Angle
Ocular hypertension, Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Idiopathic Anterior Uveitis
Red eye, Nuclear cataract, Ocular hypertension, Increased cup-to-disc ratio, Macular edema, Poste... ORPHA:280914
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Truncal obesity, ... OMIM:615986
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Bardet-Biedl Syndrome 4
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Bardet-Biedl Syndrome 2
Obesity, Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy OMIM:615981
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Retinal ne... ORPHA:247691
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration, Marginal corneal dystrophy OMIM:210370
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension OMIM:156600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Coats Disease
Abnormal retinal vascular morphology, Abnormal macular morphology, Retinal detachment, Cataract, ... ORPHA:190
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Ocular hypertension, Ectopia pupillae, Co... ORPHA:98973
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration OMIM:252650
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Ocular hypertension OMIM:610023
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Sjogren-Larsson Syndrome
Macular degeneration, Opacification of the corneal epithelium, Retinal thinning, Retinal pigment ... OMIM:270200
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Ocular hypertension, Retinal coloboma, Morning glory anomaly, Ch... OMIM:612109
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Sclerocornea, Ocular hypertension OMIM:269400
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration OMIM:520000
Phacoanaphylactic Uveitis
Red eye, Keratitis, Pseudophakia, Abnormal pupil morphology, Cystoid macular edema, Ocular hypert... ORPHA:209959
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Scheie Syndrome
Corneal opacity, Aortic regurgitation, Aortic valve stenosis, Retinal degeneration OMIM:607016
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract, Retinal atrophy OMIM:616722
Nephronophthisis 14
Retinal degeneration OMIM:614844
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Retinal Cone Dystrophy 3B
Astigmatism, Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance OMIM:145750
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Retinal degeneration, Macular degeneration OMIM:604360
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Ocular hypertension OMIM:107250
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Ocular hypertension, Microcornea, Cataract, Posterior synech... OMIM:610256
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Hsd10 Mitochondrial Disease
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration OMIM:300438
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... OMIM:619260
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Arrhythmia, Cataract, Cardiomyopathy, Congestive heart ... OMIM:266500
Alg6-Cdg
Failure to thrive, Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Sjögren-Larsson Syndrome
Retinopathy, Abnormality of retinal pigmentation, Corneal erosion, Macular degeneration ORPHA:816
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Arrhythmia, Cone/cone-rod dystrophy, Optic atrophy, Cardiomyopathy OMIM:249270
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Hyperostosis Cranialis Interna
Optic atrophy, Ocular hypertension OMIM:144755
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Retinal degeneration OMIM:616896
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Keratoconus, Pr... ORPHA:542306
Congenital Microcoria
Hypoplastic iris stroma, Nuclear cataract, Ocular hypertension, Corneal stromal edema, Megalocorn... ORPHA:566
Senior-Loken Syndrome 9
Obesity, Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Ocular hypertension, Cataract, Hypertension, Obesity, Aniridia OMIM:612469
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Tachycardia, Retinal degeneration ORPHA:79264
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Retinal peau d'orange, Macular degen... OMIM:264800
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy, Opacification of the corneal stroma, Hyperopic astigmatism, Ao... OMIM:252600
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Failure to thrive, Retinal degeneration ORPHA:442835
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hypertension OMIM:615812
Dural Sinus Malformation
Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Papilledema, Ocular hypertension... ORPHA:97339
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Retinal degeneration OMIM:615630
Bardet-Biedl Syndrome 1
Abdominal obesity, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels... OMIM:209900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Macular degeneration ORPHA:284289
Glaucoma 3, Primary Congenital, A
Ocular hypertension OMIM:231300
Zika Virus Disease
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Retinal degeneration, Retinopathy, Angioid streaks of the fundus, Macular scar OMIM:239000
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Axial Spondylometaphyseal Dysplasia
Rod-cone dystrophy, Peripheral retinal degeneration, Retinal dystrophy, Optic atrophy, Cataract ORPHA:168549
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Juvenile cataract, Rod-cone dystrophy ORPHA:436245
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Retinal degeneration OMIM:615249
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Retinal... ORPHA:85167
Aceruloplasminemia
Retinal degeneration OMIM:604290
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Astigmatism ORPHA:168491
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... ORPHA:2457
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Ocular hypertension, Spontaneous conjunctival filtering bleb, Cataract, Anterior sy... OMIM:601552
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Tubulointerstitial Nephritis And Uveitis Syndrome
Red eye, Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Ocular ... ORPHA:91500
Musculocontractural Ehlers-Danlos Syndrome
Astigmatism, Retinal detachment, Ocular hypertension ORPHA:2953
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Papillorenal Syndrome
Macular degeneration, Lens luxation, Retinal coloboma, Morning glory anomaly, Chorioretinal atrop... OMIM:120330
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Hypoketotic hypoglycemia, Tachycardia, Arrhythmia, Overweight, Dilated... ORPHA:26793
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration OMIM:272200
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Rod-cone dystrophy, Heart murmur ORPHA:166035
Kniest Dysplasia
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lens luxation, Lattice retinal... ORPHA:485
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free f... OMIM:610768
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration, Congestive heart... ORPHA:48818
Hurler Syndrome
Corneal opacity, Retinal degeneration, Mitral regurgitation, Opacification of the corneal stroma,... OMIM:607014
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Retinal degeneration, Subdural hemorrhage, Abnormality of macular pigmentation... ORPHA:79282
Cockayne Syndrome Type 3
Corneal ulceration, Retinal degeneration, Subdural hemorrhage, Retinal hemorrhage, Retinal dystro... ORPHA:90324
Cockayne Syndrome
Corneal ulceration, Abnormal cornea morphology, Abnormality of retinal pigmentation, Band keratop... ORPHA:191
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Macular degeneration, Retinal hemorrhage, Angioid streaks o... OMIM:177850
Trichothiodystrophy
Retinal degeneration, Macular degeneration, Microcornea, Astigmatism, Developmental cataract, Ker... ORPHA:33364
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Orthostatic hypotension, Overweight, Retinal degeneration ORPHA:2822
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Knobloch Syndrome
Macular degeneration, Retinal detachment, Vitreoretinopathy, Cataract, Abnormal vitreous humor mo... ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Optic nerve hypoplasia, Retinal detachment, Megalocornea, Optic atrophy, Catarac... OMIM:236670
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Megalocornea, Opacification of the corneal stroma... OMIM:253280
Farber Disease
Failure to thrive, Corneal opacity, Cherry red spot of the macula, Macular degeneration, Opacific... ORPHA:333
Mucopolysaccharidosis Type 3
Corneal opacity, Retinal degeneration, Rod-cone dystrophy, Opacification of the corneal stroma, P... ORPHA:581
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Lester's sign, Ocular hypertension ORPHA:2614
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Spinocerebellar Ataxia Type 7
Failure to thrive, Macular degeneration, Cone/cone-rod dystrophy, Abnormal fundus morphology, Con... ORPHA:94147
Mucopolysaccharidosis Type 2
Corneal opacity, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinal degener... ORPHA:580
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Alport Syndrome
Macular degeneration, Recurrent corneal erosions, Posterior subcapsular cataract, Retinal flecks,... ORPHA:63
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
Cockayne Syndrome A
Failure to thrive, Retinal pigment epithelial mottling, Arrhythmia, Pigmentary retinopathy, Opaci... OMIM:216400
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Ocular hypertension ORPHA:93315
Cancer-Associated Retinopathy
Granular macular appearance, Retinal pigment epithelial atrophy, Optic atrophy, Optic disc pallor... ORPHA:71505
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Retinal degeneration OMIM:618479
Atypical Werner Syndrome
Telangiectasia of the skin, Failure to thrive, Abnormality of retinal pigmentation, Aortic valve ... ORPHA:79474
Non-Specific Syndromic Intellectual Disability
Papilledema, Decreased body weight, Retinal atrophy, Astigmatism ORPHA:528084
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Retinal degeneration OMIM:208500
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Optic atrophy, Abnormal retinal morphology, Retinal atrophy, Pulmonary arteria... ORPHA:2785
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Severe failure to thrive, Bradycardia ORPHA:97297
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Failure to thrive, Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels... OMIM:266920
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Pigmentary retinopathy OMIM:234200
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration ORPHA:247234
Say-Barber-Miller Syndrome
Optic atrophy, Rod-cone dystrophy, Macular degeneration ORPHA:3132
Alström Syndrome
Abnormal coronary artery physiology, Posterior subcapsular cataract, Cone/cone-rod dystrophy, Ret... 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 Rock2

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 Rock2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Conditional deletion of ROCK2 induces anxiety-like behaviors and alters dendritic spine density and morphology on CA1 pyramidal neurons. Molecular brain (November 2021) Rock2tm1a(KOMP)Wtsi PMC8600782
Fasudil or genetic depletion of ROCK1 or ROCK2 induces anxiety-like behaviors. Behavioural brain research (July 2019) Rock2tm1a(KOMP)Wtsi 31302146

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MGI Allele Allele Type Produced
Rock2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rock2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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