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Gene: Gnat2 MGI:95779

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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 fundus

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Eye Morphology

VIP of left fundus

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Eye Morphology

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Eye Morphology

VIP of left eye

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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, Retinal pigment epithelial mottling, Abnormal macular mo... 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, 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
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Retinopathy OMIM:615119
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Gliosis ORPHA:99802
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Gliosis,... 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
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Gliosis OMIM:236792
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Gliosis OMIM:603896
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Degeneration of anterior horn cells, Axonal degeneration OMIM:604484
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system OMIM:614959
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Gliosis OMIM:256000
Huntington Disease
Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system OMIM:143100
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Spastic Paraplegia 50, Autosomal Recessive
Optic disc pallor, Cerebellar atrophy, Gliosis OMIM:612936
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Gliosis, Neuronal loss in central ne... OMIM:614498
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:604218
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal upper motor neuron morphology, Degeneration of the lateral cortico... ORPHA:275872
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Global brain atrophy, Corpus callosum atrophy, Gliosis, Neuronal loss in central nervous system OMIM:221820
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Caudate atrophy, Gliosis, Cerebral atrophy OMIM:221770
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervous s... 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
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Corpus callo... OMIM:169500
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Cerebellar atrophy, Gliosis OMIM:618369
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system ORPHA:204
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Cerebellar atrophy, Gliosis ORPHA:168486
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system OMIM:607136
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Gliosis, Cerebral atrophy OMIM:615095
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
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
Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper... 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
Cerebellar atrophy, Neurodegeneration, Diffuse cerebral atrophy, Gliosis, Brain atrophy OMIM:214150
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Gliosis, Basal ganglia gliosis, Cerebral atrophy ORPHA:79243
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Gliosis, Neuronal loss in central nervous sy... OMIM:604377
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Atrophy/Degeneration affect... OMIM:617193
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Gliosis ORPHA:3240
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Cerebellar atrophy, Retinal degeneration, Corpus callosum atrophy, Gli... OMIM:248500
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Gliosis ORPHA:157941
Machado-Joseph Disease
Cerebellar atrophy, Gliosis, Abnormal autonomic nervous system physiology OMIM:109150
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Diffuse cerebral atrophy, Gliosi... 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, Cerebellar atrophy, Gliosis 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
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Tay-Sachs Disease
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Cherry red spot of the macula, Gliosis ORPHA:845
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Global brain atrophy, Abn... ORPHA:909
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Gliosis, Cerebral atrophy OMIM:619847
Progressive Supranuclear Palsy
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system ORPHA:683
Leigh Syndrome
Optic atrophy, Cerebellar atrophy, Abnormal optic nerve morphology, Gliosis ORPHA:506
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system OMIM:607485
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Cone/cone-rod dystro... ORPHA:404454
Familial Acute Necrotizing Encephalopathy
Gliosis ORPHA:88619
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Cerebral cortical atrophy, Gliosis ORPHA:411602
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Neurodegeneration, Gliosis, Cerebral atrophy OMIM:618321
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Vitreous hemorrhage, Retinal detachment, Corpus callosum atrophy, Gl... OMIM:620371
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Kleefstra Syndrome Due To A Point Mutation
Gliosis ORPHA:261652
Cockayne Syndrome
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Cerebellar atrophy, Cereb... ORPHA:191
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis ORPHA:280210
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Corpus callosum atrophy, Gliosis, Cerebellar atrophy OMIM:261515
Parkinson Disease 1, Autosomal Dominant
Global brain atrophy, Gliosis OMIM:168601
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Molybdenum Cofactor Deficiency, Type B
Diffuse cerebral atrophy, Gliosis, Cerebral atrophy OMIM:252160
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Senile plaques,... 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
Cerebral cortical atrophy, Abnormal optic chiasm morphology, Retinal detachment, Gliosis ORPHA:268261
Congenital Primary Aphakia
Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
Molybdenum Cofactor Deficiency, Type A
Gliosis, Cerebral atrophy OMIM:252150
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral atrophy, Cerebral cortical neurodegeneration, Astrocytosis, Gliosis,... OMIM:203700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... ORPHA:247691
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Gliosis OMIM:615273
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Cerebellar atrophy, Gliosis OMIM:301072
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis OMIM:618222
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Neurodegeneration, Gliosis, Optic nerve hypoplasia OMIM:620455
Supranuclear Palsy, Progressive, 2
Gliosis, Neuronal loss in central nervous system, Granulovacuolar degeneration OMIM:609454
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Gliosis OMIM:615873
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system 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
Gnat2em1(IMPC)Bay Exon Deletion Mice
Gnat2tm44120(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
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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