Gene Summary

Name:
G protein subunit alpha transducin 2
Synonyms:
Tcalpha,  Gnat-2,  Gt-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left fundus

15 Images

Human diseases caused by Gnat2 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 Gnat2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Achromatopsia 4
OMIM:613856

The table below shows human diseases predicted to be associated to Gnat2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis OMIM:615119
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy OMIM:600790
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Hemimegalencephaly
Optic atrophy, Gliosis, Abnormal neuron morphology ORPHA:99802
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal lower motor neuron m... OMIM:105550
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Congenital Glaucoma
Retinal detachment ORPHA:98976
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Gliosis, Cerebellar atrophy, Corpus callosum atrophy OMIM:236792
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Gliosis OMIM:603896
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Axonal degeneration OMIM:604484
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis OMIM:614959
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy OMIM:143100
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebellar atrophy, Optic disc pallor OMIM:612936
Leigh Syndrome
Optic atrophy, Gliosis, Pigmentary retinopathy OMIM:256000
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal autonomic nervous syste... OMIM:614498
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis OMIM:604218
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal upper motor neuron morphology, Gliosis, Abnormal lower motor neuro... ORPHA:275872
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Global brain atrophy, Corpus callosum atrophy OMIM:221820
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis, Cerebral atrophy, Caudate atrophy OMIM:221770
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Neurodegener... OMIM:616239
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Gliosis, Cerebral cortical atrophy OMIM:277470
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Spinocerebellar Ataxia, Autosomal Recessive 2
Cerebellar vermis atrophy, Gliosis OMIM:213200
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Autonomic erectile dysfunction, Corpus callosum atrophy, Orthostatic hypotension due to ... OMIM:169500
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Gliosis, Cerebellar atrophy OMIM:618369
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Neuronal loss in central nervous system, Astrocytosis, Gliosis ORPHA:204
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Cerebellar atrophy, Gliosis ORPHA:168486
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Spinocerebellar Ataxia 17
Neuronal loss in central nervous system, Gliosis, Diffuse cerebral atrophy, Cerebellar atrophy OMIM:607136
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Gliosis, Cerebellar atrophy OMIM:615095
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Papillorenal Syndrome
Retinal detachment, Macular degeneration, Gliosis, Chorioretinal atrophy, Retinal coloboma, Optic... OMIM:120330
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Gliosis, Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration OMIM:214150
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Gliosis, Cerebellar gliosis, Cerebral atrophy ORPHA:79243
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebral atrophy, Brain atrophy, Gliosis, Neuronal loss in central nervous system, Cerebellar atr... OMIM:604377
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Neuronal loss in central ne... OMIM:617193
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Gliosis, Diffuse cerebral atrophy, Absent brainstem auditory responses ORPHA:3240
Mannosidosis, Alpha B, Lysosomal
Gliosis, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degenera... OMIM:248500
Huntington Disease-Like 1
Cerebral cortical atrophy, Gliosis, Cerebellar atrophy ORPHA:157941
Machado-Joseph Disease
Gliosis, Cerebellar atrophy, Abnormal autonomic nervous system physiology OMIM:109150
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Cerebellar atrophy, Basa... OMIM:614946
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Gliosis, Cerebellar atrophy OMIM:620451
Intellectual Developmental Disorder, X-Linked 12
Gliosis OMIM:300957
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis ORPHA:457240
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Tay-Sachs Disease
Optic atrophy, Global brain atrophy, Gliosis, Cerebellar atrophy, Cherry red spot of the macula ORPHA:845
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Gl... ORPHA:909
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Gliosis OMIM:619847
Progressive Supranuclear Palsy
Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis ORPHA:683
Leigh Syndrome
Optic atrophy, Gliosis, Cerebellar atrophy, Abnormal optic nerve morphology ORPHA:506
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis OMIM:607485
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Cerebral atrophy, Gliosis, Cerebellar atrophy, Pigmentary retinopathy, Cone/cone-r... ORPHA:404454
Familial Acute Necrotizing Encephalopathy
Gliosis ORPHA:88619
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Gliosis, Orthostatic hypotension due to autonomic dysfunction ORPHA:411602
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Gliosis, Neurodegeneration OMIM:618321
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Retinal detachment, Gliosis, Retinal hemorrhage, Corpus callosum atr... OMIM:620371
Kleefstra Syndrome Due To A Point Mutation
Gliosis ORPHA:261652
Cockayne Syndrome
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Gliosis,... ORPHA:191
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis ORPHA:280210
D-Bifunctional Protein Deficiency
Gliosis, Decreased nerve conduction velocity, Cerebellar atrophy, Corpus callosum atrophy OMIM:261515
Parkinson Disease 1, Autosomal Dominant
Gliosis, Global brain atrophy OMIM:168601
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Gliosis, Diffuse cerebral atrophy OMIM:252160
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Senile plaques, Neuronal loss in central nervous system, Astrocytosis, Gliosis,... OMIM:601104
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebral atrophy, Cerebellar atrophy, Gliosis, Rod-cone dystrophy OMIM:124000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Gliosis, Cerebral cortical atrophy, Abnormal optic chiasm morphology ORPHA:268261
Congenital Primary Aphakia
Retinal detachment, Optic disc coloboma, Retinal dysplasia ORPHA:83461
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Gliosis OMIM:252150
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Cerebral cortical neurodegeneration, Neuronal loss in central nervous system, A... OMIM:203700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascula... ORPHA:247691
Congenital Disorder Of Deglycosylation 1
Gliosis, Decreased sensory nerve conduction velocity OMIM:615273
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Gliosis, Cerebellar atrophy OMIM:301072
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis OMIM:618222
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Optic nerve hypoplasia, Gliosis, Neurodegeneration OMIM:620455
Supranuclear Palsy, Progressive, 2
Neuronal loss in central nervous system, Gliosis, Granulovacuolar degeneration OMIM:609454
Helsmoortel-Van Der Aa Syndrome
Gliosis, Facial palsy OMIM:615873
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis OMIM:300868
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Gabriele-De Vries Syndrome
Gliosis ORPHA:506358
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Gliosis OMIM:220111
Achromatopsia 4
OMIM:613856

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 Gnat2

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 Gnat2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Visual System Hyperexcitability and Compromised V1 Receptive Field Properties in Early-Stage Retinitis Pigmentosa in Mice. eNeuro (May 2022) Gnat2tm1(KOMP)Vlcg PMC9239850
Homeostatic plasticity in the retina is associated with maintenance of night vision during retinal degenerative disease. eLife (September 2020) Gnat2tm1(KOMP)Vlcg PMC7529457
Rod Photoreceptors Signal Fast Changes in Daylight Levels Using a Cx36-Independent Retinal Pathway in Mouse. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2019) Gnat2tm1(KOMP)Vlcg 31776212
A Mixture of U.S. Food and Drug Administration-Approved Monoaminergic Drugs Protects the Retina From Light Damage in Diverse Models of Night Blindness. Investigative ophthalmology & visual science (April 2019) Gnat2tm1(KOMP)Vlcg 30947334
Loss of cone function without degeneration in a novel Gnat2 knock-out mouse. Experimental eye research (March 2018) Gnat2tm1(KOMP)Vlcg PMC5987249

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MGI Allele Allele Type Produced
Gnat2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gnat2tm44120(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gnat2em1(IMPC)Bay Exon Deletion Mice
Gnat2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gnat2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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