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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 eye

17 Images

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Eye Morphology

VIP of right fundus

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Eye Morphology

VIP of left fundus

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Eye Morphology

VIP of left eye

17 Images

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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
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... 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
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
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Gliosis, Global brain atrophy OMIM:236792
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis OMIM:615119
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Hemimegalencephaly
Optic atrophy, Gliosis, Abnormal neuron morphology ORPHA:99802
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... OMIM:105550
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Congenital Glaucoma
Retinal detachment ORPHA:98976
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Gliosis... OMIM:256600
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... 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, Axonal degeneration, Gliosis OMIM:604484
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:614959
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Huntington Disease
Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis OMIM:143100
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Optic disc pallor, Gliosis OMIM:612936
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Gliosis OMIM:256000
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Neuronal loss in central nervous system, Gliosis, Optic atrophy, Abnormal autonomic nervous syste... OMIM:614498
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:604218
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Gliosis... ORPHA:275872
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Corpus callosum atrophy, Neuronal loss in central nervous system, Gliosis, Global brain atrophy 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
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervous s... OMIM:616239
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Optic atrophy, Gliosis 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
Gliosis, Cerebellar vermis atrophy OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Gliosis, Cerebral cortical atrophy OMIM:618369
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Gliosis, Autonomic bladder dysfunction, Autonomic erectile dysfunction, ... OMIM:169500
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis ORPHA:204
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Gliosis, Abnormal astrocyte morphology ORPHA:168486
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Neuronal loss in central nervous system, Gliosis OMIM:607136
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Gliosis, Cerebral atrophy OMIM:615095
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Gliosis, Cerebral atrophy, Basal ganglia gliosis ORPHA:79243
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neurodegeneration, Brain atrophy OMIM:214150
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... OMIM:604377
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Diffuse cerebral atrophy, Optic atrophy, Gliosis, Atrophy/Degeneration affect... OMIM:617193
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Cerebral cortical atrophy, Retinal degenera... OMIM:248500
Huntington Disease-Like 1
Cerebellar atrophy, Gliosis, Cerebral cortical atrophy ORPHA:157941
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff... OMIM:614946
Machado-Joseph Disease
Cerebellar atrophy, Gliosis, Abnormal autonomic nervous system physiology OMIM:109150
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Gliosis ORPHA:3240
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
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, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Tay-Sachs Disease
Cerebellar atrophy, Optic atrophy, Gliosis, Cherry red spot of the macula, Global brain atrophy ORPHA:845
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy ORPHA:683
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Gliosis, Cerebral atrophy OMIM:619847
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Leigh Syndrome
Cerebellar atrophy, Gliosis, Optic atrophy, Abnormal optic nerve morphology ORPHA:506
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:607485
Hereditary Late-Onset Parkinson Disease
Gliosis, Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfunction ORPHA:411602
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ... ORPHA:404454
Familial Acute Necrotizing Encephalopathy
Gliosis ORPHA:88619
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Neurodegeneration, Gliosis, Cerebral atrophy OMIM:618321
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Kleefstra Syndrome Due To A Point Mutation
Gliosis ORPHA:261652
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
Parkinson Disease 1, Autosomal Dominant
Gliosis, Global brain atrophy OMIM:168601
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis ORPHA:280210
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Corpus callosum atrophy, Cerebellar atrophy, Gliosis OMIM:261515
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Gliosis, Cerebral atrophy OMIM:252160
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Senile plaques, Neuronal l... OMIM:601104
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Rod-cone dystrophy, Gliosis, Cerebral atrophy OMIM:124000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Abnormal optic chiasm morphology, Gliosis, Cerebral cortical atrophy ORPHA:268261
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Cerebral atrophy OMIM:252150
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, Gliosis,... OMIM:203700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Gliosis, Cerebral cortical atrophy OMIM:301072
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Gliosis OMIM:615273
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis OMIM:618222
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
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy 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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