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Gene: Pde6g MGI:97526

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphodiesterase 6G, cGMP-specific, rod, gamma
Synonyms:
Pdeg

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pde6g 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 Pde6g by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791

The table below shows human diseases predicted to be associated to Pde6g by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... ORPHA:1215
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... ORPHA:352731
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased motor nerve ... OMIM:601152
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormality of visual evoked pot... OMIM:229300
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased nerve conduc... ORPHA:485421
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Mohr-Tranebjaerg Syndrome
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Abno... ORPHA:52368
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials ORPHA:702
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Micro Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti... ORPHA:2510
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of visual evoked potential... ORPHA:35069
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:480898
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309263
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prolonged brainstem... ORPHA:206443
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ... ORPHA:206436
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
White-Sutton Syndrome
Optic nerve hypoplasia, Abnormality of visual evoked potentials, Rod-cone dystrophy OMIM:616364
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials ORPHA:79330
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Cockayne Syndrome A
Decreased nerve conduction velocity, Retinal pigment epithelial mottling, Abnormality of visual e... OMIM:216400
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal retinal vascular morphology, Decreased nerve conduction velocity, Hype... ORPHA:909
Cockayne Syndrome B
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Pigmentary retinopa... OMIM:133540
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667

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 Pde6g

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 Pde6g.

No publications found that use IMPC mice or data for Pde6g.

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MGI Allele Allele Type Produced
Pde6gtm46984(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pde6gtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pde6gtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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