Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphodiesterase 6D, cGMP-specific, rod, delta
Synonyms:
N/A

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 Pde6d 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 Pde6d by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Joubert Syndrome 22
Retinal dysplasia OMIM:615665
Orofaciodigital Syndrome Type 6
Failure to thrive ORPHA:2754

The table below shows human diseases predicted to be associated to Pde6d by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
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
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610381
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen OMIM:136550
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration OMIM:600977
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Morm Syndrome
Retinal dystrophy, Truncal obesity, Retinal atrophy ORPHA:75858
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Bardet-Biedl Syndrome 16
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615993
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... OMIM:608161
Oliver-Mcfarlane Syndrome
Retinal degeneration, Small for gestational age, Pigmentary retinopathy OMIM:275400
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Bardet-Biedl Syndrome 4
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... OMIM:617406
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Rod-cone dystrophy OMIM:618220
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Drusen OMIM:608895
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
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
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Bardet-Biedl Syndrome 2
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615981
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex OMIM:615147
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Nephronophthisis 14
Retinal degeneration OMIM:614844
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... OMIM:616648
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage OMIM:264420
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Oguchi Disease
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy ORPHA:75382
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels OMIM:604393
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment OMIM:212550
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration OMIM:270200
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Chorioretinal atrophy OMIM:210370
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Truncal obesity, Rod-cone dystroph... OMIM:615986
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Macular degeneration OMIM:204200
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy OMIM:616171
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Retinal degeneration, Macular degeneration OMIM:604360
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Abetalipoproteinemia
Retinal degeneration, Retinopathy OMIM:200100
Peroxisomal Acyl-Coa Oxidase Deficiency
Failure to thrive, Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Alg6-Cdg
Failure to thrive, Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... ORPHA:352731
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Senior-Loken Syndrome 9
Retinal dystrophy, Obesity, Rod-cone dystrophy, Macular degeneration OMIM:616629
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... ORPHA:52427
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Krabbe Disease
Abnormal flash visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity, Fail... OMIM:245200
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Scheie Syndrome
Retinal degeneration OMIM:607016
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular degeneration ORPHA:816
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:249270
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Abnormality of visual evoked potentials ORPHA:1389
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Pelizaeus-Merzbacher Disease
Optic atrophy, Failure to thrive in infancy, Abnormality of visual evoked potentials, Cachexia ORPHA:702
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... ORPHA:168491
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ma... OMIM:619260
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potent... OMIM:601152
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Retinal degeneration, Pigmentary retinopathy ORPHA:79264
Cone-Rod Dystrophy 10
Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:610283
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal dystrophy, Retinal atrophy ORPHA:370022
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Abnormality of pattern visual evoked potentials, Rod-cone dystrophy ORPHA:166035
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus OMIM:239000
Aceruloplasminemia
Retinal degeneration OMIM:604290
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration, Orthostatic hypotension, Overweight, Obesity, Abnormality of pattern visual... ORPHA:2822
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Retinal degeneration OMIM:615630
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... OMIM:616959
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Optic atrophy, Retinal degeneration ORPHA:442835
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Se... ORPHA:423479
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Werner Syndrome
Retinal degeneration OMIM:277700
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration OMIM:610688
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
Papillorenal Syndrome
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... OMIM:120330
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrop... OMIM:229300
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormality of visual evoked poten... ORPHA:52368
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, Hyperautofluorescent macular lesi... OMIM:209900
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy OMIM:252600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of visual evoked potential... ORPHA:35069
White-Sutton Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Rod-cone dystrophy OMIM:616364
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
Infantile Krabbe Disease
Optic atrophy, Cachexia, Abnormality of visual evoked potentials, Cherry red spot of the macula, ... ORPHA:206436
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309263
Pseudoxanthoma Elasticum
Retinal hemorrhage, Choroidal neovascularization, Optic disc drusen, Macular degeneration, Retina... OMIM:264800
Nephronophthisis 11
Retinal degeneration OMIM:613550
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Retinal degeneration, Retinal dysplasia, Enlarged flash visual evoked potentials, ... OMIM:253280
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Retinal degeneration, Rod-cone dystrophy OMIM:250410
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ... ORPHA:85167
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Retinal degeneration, Pigmentary retinopathy ORPHA:99
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy OMIM:601777
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Retinal degeneration, Failure to thrive, Macular coloboma, Abnormality of macular ... ORPHA:79282
Senior-Loken Syndrome 8
Macular atrophy OMIM:616307
Zika Virus Disease
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... ORPHA:448237
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prolonged brainstem... ORPHA:206443
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Cone/cone-rod dystrophy, Failure to thrive, Macular degeneration ORPHA:94147
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
Hurler Syndrome
Retinal degeneration OMIM:607014
Kniest Dysplasia
Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal det... ORPHA:485
Joubert Syndrome 22
Retinal dysplasia OMIM:615665
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Weight loss, Abnormality of visual evoked potentials, Ocular albi... ORPHA:79430
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology, Macular degenera... ORPHA:247234
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Vitritis, Retinal pigment epitheli... ORPHA:71505
Trichothiodystrophy
Retinal degeneration, Macular degeneration ORPHA:33364
Cockayne Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Cach... ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Retinal atrophy OMIM:236670
Mogs-Cdg
Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory responses ORPHA:79330
Knobloch Syndrome
Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration ORPHA:1571
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Cockayne Syndrome Type 3
Optic disc pallor, Retinal degeneration, Retinal dystrophy, Abnormality of peripheral nerve condu... ORPHA:90324
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Decreased nerve conduct... ORPHA:580
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:581
Farber Disease
Failure to thrive, Cherry red spot of the macula, Macular degeneration ORPHA:333
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Failure to thrive, Cranial nerve compression, Retinal atrophy, Abnormal retinal mo... ORPHA:2785
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Smal... OMIM:133540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Abnormality of visual evoked potentials OMIM:203700
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Pigmentary retinopathy OMIM:234200
Bohring-Opitz Syndrome
Optic atrophy, Severe failure to thrive, Retinal atrophy ORPHA:97297
Xq21 Microdeletion Syndrome
Optic atrophy, Choroideremia, Chorioretinal degeneration, Obesity, Abnormal chorioretinal morphol... ORPHA:1435
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Reti... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormality of visual evoked potentials, Abno... ORPHA:909
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Non-Specific Syndromic Intellectual Disability
Papilledema, Decreased body weight, Retinal atrophy ORPHA:528084
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Alport Syndrome
Retinal flecks, Macular degeneration ORPHA:63
Say-Barber-Miller Syndrome
Optic atrophy, Rod-cone dystrophy, Macular degeneration ORPHA:3132
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Atypical Werner Syndrome
Failure to thrive, Abnormality of retinal pigmentation, Decreased body weight, Retinal degeneration ORPHA:79474
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Alström Syndrome
Optic disc pallor, Drusen, Retinal dystrophy, Truncal obesity, Retinal pigment epithelial atrophy... ORPHA:64
Orofaciodigital Syndrome Type 6
Failure to thrive ORPHA:2754

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 Pde6d

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 Pde6d.

No publications found that use IMPC mice or data for Pde6d.

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MGI Allele Allele Type Produced
Pde6dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pde6dtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pde6dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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