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

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 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, Optic disc pallor, Vitreous floaters, Ocular hypertensio... ORPHA:179
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
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
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Neovascular Glaucoma
Abnormality of the optic nerve, Ocular hypertension, Corneal stromal edema, Retinal vascular prol... ORPHA:94058
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Myocardial infarct... OMIM:610947
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Ocular hypertension, Macular ede... ORPHA:209943
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal arter... OMIM:193220
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Ocular hypertension OMIM:613517
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Macular atrophy, Ocular hypertension OMIM:602499
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
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
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy OMIM:605670
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio, Ocular hypertension OMIM:603383
Morm Syndrome
Retinal dystrophy, Truncal obesity, Cataract, Retinal atrophy ORPHA:75858
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Small for gestational age, Abnormal... ORPHA:90050
Retinal Dystrophy And Obesity
Retinal dystrophy, Obesity, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal de... OMIM:616188
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610381
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Bardet-Biedl Syndrome 13
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... OMIM:615990
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen OMIM:136550
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Small for gestational age, Pigmentary retinopathy OMIM:275400
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Late-Onset Retinal Degeneration
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea OMIM:615147
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration OMIM:600977
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Bardet-Biedl Syndrome 16
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615993
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Ocular hypertension, Zonular cataract, Iris melanoma, Reti... ORPHA:39044
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Ocular hypertension, Choroidal neovascularization, Red... ORPHA:280921
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... OMIM:608161
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Morbid Obesity And Spermatogenic Failure
Hypertension, Type II diabetes mellitus, Insulin resistance, Myocardial infarction, Hypercholeste... OMIM:615703
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Retinal degeneration, Bradycardia, Sick sinus syndrome OMIM:617173
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... OMIM:617406
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy OMIM:250450
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... ORPHA:41751
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Ocular hypertension... ORPHA:98977
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber, Ocular hypertension OMIM:618880
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Bardet-Biedl Syndrome 9
Retinal degeneration, Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Trunc... OMIM:615986
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Ocular hypertension, Red eye, Macular edema, In... ORPHA:280914
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ocular hypertension, Ectopia lentis OMIM:613195
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Bardet-Biedl Syndrome 4
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Cardiomyopathy, Raynaud phenomenon, Macular edema, Abnormal retinal... ORPHA:247691
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615981
Retinitis Pigmentosa 77
Cystoid macular edema, Posterior subcapsular cataract, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension OMIM:156600
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma... OMIM:270200
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration, ... OMIM:204200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cataract, Retinopathy, Microcornea OMIM:616171
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore... OMIM:613750
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Marginal corneal dystrophy, Chorioretinal atrophy OMIM:210370
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Retinitis Pigmentosa 56
Nuclear cataract, Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Weill-Marchesani Syndrome 3
Ocular hypertension, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Posterior Polymorphous Corneal Dystrophy
Ocular hypertension, Corneal stromal edema, Reduced number of corneal endothelial cells, Increase... ORPHA:98973
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension, Iris coloboma OMIM:610023
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Poster... ORPHA:364055
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Ocular hypertension, Posterior embryot... OMIM:612109
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on ... OMIM:145350
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular hypertension OMIM:269400
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Retinal arteritis, Tractional retinal detachment, Corneal keratic precipi... ORPHA:209959
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Le... ORPHA:52427
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Cardiomyopathy, Pigmentary retinopathy OMIM:520000
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Oguchi Disease
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy ORPHA:75382
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Corneal opacity, Retinal degeneration OMIM:607016
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage OMIM:264420
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia OMIM:145750
Retinal Cone Dystrophy 3B
Astigmatism, Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
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 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration OMIM:300438
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Anterior Segment Dysgenesis 2
Ocular hypertension, Aniridia, Congenital aphakia, Sclerocornea, Posterior synechiae of the anter... OMIM:610256
Refsum Disease, Classic
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Congestive heart failure, Cataract, Arr... OMIM:266500
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Alg6-Cdg
Failure to thrive, Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Macular degeneration, Corneal erosion, Retinopathy ORPHA:816
Hyperostosis Cranialis Interna
Optic atrophy, Ocular hypertension OMIM:144755
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Cataract, Attenuation... OMIM:619260
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cardiomyopathy, Cone/cone-rod dystrophy, Arrhythmia OMIM:249270
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Congenital Microcoria
Nuclear cataract, Developmental cataract, Ocular hypertension, Corneal stromal edema, Iris transi... ORPHA:566
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Senior-Loken Syndrome 9
Retinal dystrophy, Obesity, Rod-cone dystrophy, Macular degeneration OMIM:616629
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Keratoconus, Prolonged PR interval,... ORPHA:542306
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Low intraocular pressure, Ectopia lentis OMIM:601552
Abetalipoproteinemia
Retinal degeneration, Retinopathy OMIM:200100
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Retinal degeneration OMIM:616896
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Retinal degeneration, Tachycardia, Pigmentary retinopathy ORPHA:79264
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Renovascular hypertension, Retinal hemorrhage, Choroidal neovascul... OMIM:264800
Bardet-Biedl Syndrome 1
Hypertension, Retinal degeneration, Retinal dystrophy, Obesity, Hyperautofluorescent macular lesi... OMIM:209900
Papillorenal Syndrome
Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc coloboma, Macular ... OMIM:120330
Werner Syndrome
Retinal degeneration, Cataract OMIM:277700
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Aortic regurgitation, Hyperopic astigmatism, Retinopathy, Opacification of ... OMIM:252600
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Abdominal obesity OMIM:615812
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Dural Sinus Malformation
Cerebral hemorrhage, Intracranial hemorrhage, Ocular hypertension, Subdural hemorrhage, Chemosis,... ORPHA:97339
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Retinal degeneration OMIM:615630
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Optic atrophy, Retinal degeneration ORPHA:442835
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus OMIM:239000
Glaucoma 3, Primary Congenital, A
Ocular hypertension OMIM:231300
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal dystrophy, Retinal atrophy ORPHA:370022
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Macular degeneration ORPHA:284289
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Cone-Rod Dystrophy 10
Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:610283
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Juvenile cataract, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... OMIM:616959
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Retinal dystrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Cataract ORPHA:168549
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
Retinal degeneration, Cataract 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
Aceruloplasminemia
Retinal degeneration OMIM:604290
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Lens subluxation, Retinal atrophy, Retinal ... ORPHA:85167
Late Infantile Neuronal Ceroid Lipofuscinosis
Astigmatism, Retinal degeneration ORPHA:168491
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Ocular hypertension, Choroidal neovascularization, Chorioret... ORPHA:91500
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... ORPHA:2457
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration OMIM:610688
Musculocontractural Ehlers-Danlos Syndrome
Astigmatism, Retinal detachment, Ocular hypertension ORPHA:2953
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Zika Virus Disease
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... ORPHA:448237
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Hypoketotic hypoglyce... ORPHA:71212
Hurler Syndrome
Retinal degeneration, Mitral regurgitation, Aortic regurgitation, Cardiomyopathy, Corneal opacity... OMIM:607014
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Rod-cone dystrophy, Heart murmur ORPHA:166035
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypoketotic hypoglycemia, Small for gestational ag... ORPHA:26793
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration OMIM:272200
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Congestive heart failure, Macular dege... ORPHA:48818
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Optic atrophy, Retinal degeneration, Subdural hemorrhage, Failure to thri... ORPHA:79282
Kniest Dysplasia
Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Vitreoretinopathy, Degenerativ... ORPHA:485
Cockayne Syndrome
Keratoconjunctivitis sicca, Hypertension, Developmental cataract, Abnormality of retinal pigmenta... ORPHA:191
Cockayne Syndrome Type 3
Keratoconjunctivitis sicca, Optic disc pallor, Retinal degeneration, Subdural hemorrhage, Retinal... ORPHA:90324
Trichothiodystrophy
Keratoconjunctivitis sicca, Developmental cataract, Retinal degeneration, Cardiomyopathy, Macular... ORPHA:33364
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Obesity, Retinal degeneration, Overweight ORPHA:2822
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Angina pectoris, Angioid streaks of the fundus, Macular degeneration, Gastro... OMIM:177850
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Retinal degeneration, Pigmentary retinopathy ORPHA:99
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Retinal degeneration, Rod-cone dystrophy OMIM:250410
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Corneal opacity, Ca... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Retinal degeneration, Retinal dysplasia, Hypoplasia of the retina, Cataract, Megal... OMIM:253280
Knobloch Syndrome
Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal vitreous hu... ORPHA:1571
Farber Disease
Cherry red spot of the macula, Failure to thrive, Macular degeneration, Corneal opacity, Abnormal... ORPHA:333
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Reduced ejection fraction, Atrioventricular block, Rod-cone ... ORPHA:581
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Failure to thrive, Macular degeneration, Congestive heart failure, Co... ORPHA:94147
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Ocular hypertension, Lester's sign ORPHA:2614
Mucopolysaccharidosis Type 2
Hypertension, Abnormality of retinal pigmentation, Optic atrophy, Retinal degeneration, Cardiomyo... ORPHA:580
Alport Syndrome
Hypertension, Posterior subcapsular cataract, Retinal flecks, Anterior lenticonus, Macular degene... ORPHA:63
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy OMIM:601777
Senior-Loken Syndrome 8
Macular atrophy OMIM:616307
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Vitritis, Retinal pigment epitheli... ORPHA:71505
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Retinal degeneration OMIM:618479
Gaucher Disease, Type I
Hypertension, Macular atrophy, Mitral regurgitation, Epistaxis, Pulmonary arterial hypertension, ... OMIM:230800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Ocular hypertension ORPHA:93315
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Retinal degeneration OMIM:208500
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Failure to thrive, Pulmonary arterial hypertension, Retinal atrophy, Abnormal reti... ORPHA:2785
Bohring-Opitz Syndrome
Optic atrophy, Severe failure to thrive, Bradycardia, Retinal atrophy ORPHA:97297
Non-Specific Syndromic Intellectual Disability
Astigmatism, Decreased body weight, Papilledema, Retinal atrophy ORPHA:528084
Atypical Werner Syndrome
Hypertension, Developmental cataract, Abnormality of retinal pigmentation, Retinal degeneration, ... ORPHA:79474
Xq21 Microdeletion Syndrome
Optic atrophy, Hypertension, Choroideremia, Chorioretinal degeneration, Obesity, Abnormal chorior... ORPHA:1435
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
Dilated cardiomyopathy, Hypertension, Optic disc pallor, Posterior subcapsular cataract, Drusen, ... 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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