Gene Summary

Name:
ceroid-lipofuscinosis, neuronal 6
Synonyms:
1810065L06Rik,  D9Bwg1455e

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Cln6tm1b(EUCOMM)Hmgu HOM Early adult 5.97×10-05
decreased prepulse inhibition Cln6tm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-06
decreased total body fat amount Cln6tm1b(EUCOMM)Hmgu HOM Early adult 2.97×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

4 Images

Gross Pathology and Tissue Collection

Images

8 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Human diseases caused by Cln6 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 Cln6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Seizure OMIM:601780
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Abnormality of extrapyr... OMIM:204300

The table below shows human diseases predicted to be associated to Cln6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski ... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Atax... OMIM:204500
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Rigidity, Spasticity, Delayed myelination, Seizure, Optic... OMIM:616211
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Dec... OMIM:605285
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... OMIM:604484
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Cerebral atrophy, Tetraplegia, Delayed myelination, Seizure, Status epilepticus OMIM:618331
Periventricular Nodular Heterotopia 8
Delayed myelination, Spasticity, Seizure, Periventricular nodular heterotopia OMIM:618185
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Seizure OMIM:601780
Familial Infantile Bilateral Striatal Necrosis
Tetraparesis, Spastic tetraparesis, Frequent falls, Basal ganglia gliosis, Choreoathetosis, Astro... ORPHA:225154
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Ha... OMIM:302800
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Retinal degeneration, Ataxia, Increased neuronal autofluorescent l... OMIM:256731
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... ORPHA:401840
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dysdiadochokinesis, Apraxia, Spa... OMIM:615157
Retinal Degeneration And Epilepsy
Retinal degeneration, Seizure OMIM:267740
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Senile plaques, Astrocytosis, Apraxia, Temp... ORPHA:100070
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Progressive cerebellar ataxia, Tremor, Central nervous system degeneration,... ORPHA:282166
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Focal Cortical Dysplasia, Type Ii
Focal impaired awareness seizure, Hemiparesis, Astrocytosis OMIM:607341
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Ataxia, Increased neuronal autofluorescent lipopigment, S... OMIM:256730
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Rigidity, Cerebral cortical atrophy, Neuronal loss in central nervous system, Babin... OMIM:600795
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Hyperleucine-Isoleucinemia
Retinal degeneration, Seizure OMIM:238340
Ethanolaminosis
Cardiomegaly OMIM:227150
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Leukodystrophy, Hypomyelinating, 13
Ataxia, Leukodystrophy, Spasticity, Clonus, Delayed myelination, Optic atrophy, Hypertonia OMIM:616881
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Cerebral cortical atrophy, Spasticity, Clonus, Gliosis, Neuronal loss in central ner... OMIM:614959
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Astrocytosis, Fasciculations, Upper motor neuron dysfunction, Bilateral tonic-c... ORPHA:275864
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Ataxia, Retinal atrophy, Increas... OMIM:610127
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Seizure, Myoclonus OMIM:606777
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Status epilepticus, Ataxia, Spast... ORPHA:71277
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Pigmentary retinopathy, Spasticity, Pachygyria, Delayed myelination, Seizure OMIM:617613
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Choreoathetosis, Decreased number of large pe... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Fasciculations, Axonal degeneration, Axonal degeneration/regenera... OMIM:614436
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Abnormal myelination, Babinski sign, Optic atrophy, Abnormality o... ORPHA:431329
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Cerebellar atrophy, Global brain atrophy, Optic neuropathy, Axonal degeneration, Del... OMIM:616811
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Combined Oxidative Phosphorylation Defect Type 29
Retinopathy, Myoclonic spasms, Global brain atrophy, Optic neuropathy, Axonal degeneration, Poor ... ORPHA:478029
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Parkinsonism, Increased extraneuronal autofluorescent lipopigment, Increased ne... OMIM:204200
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Cerebral cortical atrophy, L... ORPHA:401820
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, Decreased number of peri... OMIM:615490
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Peripheral demyelination, Axonal degeneration, ... OMIM:604168
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Photosensitive myoclonic seizure, Astrocytosis, Ataxia, Slowed slurred speech, Focal motor seizure OMIM:172500
Developmental And Epileptic Encephalopathy 58
Delayed myelination, Seizure, Optic atrophy, Status epilepticus, Spastic diplegia OMIM:617830
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Cerebral ... ORPHA:401830
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Spasticity, Macular degeneration, CNS demye... OMIM:270200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Retinal degeneration, Spastic paraplegia, Ataxia, Lower limb spasticity, Degenerati... OMIM:604360
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Generalized myoclonic seizure, Ataxia ORPHA:85334
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Status epilepticus, Hemiparesis, Delayed myelination, Abnormality of extrapyram... OMIM:615338
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Multifocal seizures, Generalized myoclonic seizure, Rigidity, Clonus, Gliosis, ... OMIM:614498
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism OMIM:105500
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Choreoathetosis, Intention tremor, Spastic parapares... OMIM:608804
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Paralysis OMIM:613710
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Retinopathy, Generalized myoclonic seizure, Ataxia, Pigment... OMIM:610951
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Clonus, Chorea, Delayed myelination, S... OMIM:613811
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Dysgyria, Type II lissencephaly, Abnormal myelination, Seizure, Optic at... ORPHA:352682
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Autosomal Dominant Cerebellar Ataxia
Action tremor, Paraparesis, Progressive cerebellar ataxia, Pigmentary retinopathy, Macular degene... ORPHA:99
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Axonal degeneration, Ataxia, Abnormality of periphera... ORPHA:88628
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Focal-onset seizure, Ataxia, Paraparesis, Spasticity, Progr... ORPHA:726
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Spasticity, Chorea, Babinski si... OMIM:164500
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Peripheral demyelinat... OMIM:617672
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Retinopathy, Simplified gyral pattern, Optic disc pallor, M... OMIM:616171
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Seizure, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Peripheral demyelination, Ataxia, CNS demyelination OMIM:200100
Primary Angiitis Of The Central Nervous System
Tetraparesis, Paralysis, Parkinsonism, Ataxia, Paraparesis, Hemiparesis, Pseudopapilledema, Seizure ORPHA:140989
Hsd10 Mitochondrial Disease
Retinal degeneration, Choreoathetosis, Spastic tetraplegia, Spasticity, Cerebral cortical atrophy... OMIM:300438
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Involuntary movements, Limb hypertonia, Ataxia, Rigidity,... ORPHA:442835
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Facial diplegia, Paralysis OMIM:616286
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Onion bulb formation, Axonal degeneration/regeneration, Decreased number of p... OMIM:607706
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Paralysis, Hypertonia, Astrocytosis, Ataxia, Myoclonus, Gliosis, Neuronal los... OMIM:203700
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Voca... OMIM:162500
Cerebral Cavernous Malformations 3
Paralysis, Seizure OMIM:603285
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Global brain atrophy, Apraxia, Bradykinesia, Rigidity, Spasticity, Corpus callosum ... OMIM:221820
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Lissencephaly 8
Lissencephaly, Spasticity, Abnormal myelination, Polymicrogyria, Seizure, Optic atrophy OMIM:617255
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Choroidal neovascularization, ... OMIM:608895
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Spastic paraparesis, Bradykinesia, Rigidity, ... OMIM:300894
Mucolipidosis Iv
Cerebral dysmyelination, Cerebellar atrophy, Retinal degeneration, Spastic tetraplegia, Babinski ... OMIM:252650
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Global brain atrophy, Apraxia... ORPHA:275872
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration OMIM:275400
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration, Spasticity, Ataxia OMIM:225755
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis, Spastic diplegia OMIM:257970
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Clonus, Axonal degeneration OMIM:618811
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration, Decreas... OMIM:604320
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Paralysis, Abnormal pyramidal sign, Neurodegeneration, Ch... OMIM:272750
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Cerebellar atrophy, Seizure, Optic atrophy OMIM:618324
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Global brain atrophy, Severe d... OMIM:236792
Horner Syndrome, Congenital
Paralysis OMIM:143000
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Cerebral atrophy, Brain atrophy, Seizure ORPHA:85179
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Vocal cord paresis, Decreased number of large peripheral myelinated ner... OMIM:614895
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Generalized-onset seizure, Intention tremor, Fasciculations, Progr... ORPHA:284289
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Myoclonic spasms, Retinal degeneration, Motor... ORPHA:79264
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Spastic Paraplegia 15, Autosomal Recessive
Spastic gait, Retinal degeneration, Spastic paraplegia, Ataxia, Lower limb spasticity, Peripheral... OMIM:270700
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Choreoathetosis, Global brain atrophy, Axonal degeneration, Ataxia, Leukodystro... OMIM:278800
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration, Seizure OMIM:617173
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Rabies
Vocal cord paresis, Seizure, Cerebral palsy ORPHA:770
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Atonic seizure, M... ORPHA:168491
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, CNS hypomyelination, At... OMIM:619260
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Spastic tetraparesis, Atonic seizure, Generalized myoclonic seizure, Ataxia, ... ORPHA:79097
Hsd10 Disease, Infantile Type
Cerebral atrophy, Spastic tetraparesis, Retinal degeneration, Choreoathetosis, Poor coordination,... ORPHA:391428
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (within the age ran... ORPHA:289266
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Rod-cone dystrophy,... OMIM:611040
Cerebrotendinous Xanthomatosis
Global brain atrophy, Paraparesis, CNS demyelination, Abnormality of extrapyramidal motor functio... ORPHA:909
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, CNS hypomyelination, Demyelinating peri... ORPHA:280234
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Ataxia, Paraparesis, Optic atrophy, Tremor ORPHA:99014
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Variegate Porphyria
Paralysis OMIM:176200
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Spastic dysarthria, Spastic paraparesis, Generalized myoclonic sei... ORPHA:313772
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seizure, Astrocytosis OMIM:611087
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Involuntary movements, Ataxia, Spasticity, Delayed myelination, Multifocal seizures, Status epile... OMIM:615905
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Nephronophthisis 15
Retinal degeneration, Seizure OMIM:614845
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Glioblastoma
Paralysis, Seizure, Glioblastoma multiforme ORPHA:360
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Seizure OMIM:520000
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... OMIM:301790
Sjögren-Larsson Syndrome
Retinopathy, Abnormal pyramidal sign, Abnormality of retinal pigmentation, Spasticity, Macular de... ORPHA:816
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Spasticity, Gliosis, Delayed myelinati... OMIM:615095
Paragangliomas 2
Chemodectoma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor, Vagal ... OMIM:601650
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Chronic ax... ORPHA:101097
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Astrocytosis, Spastic paraparesis, Bradykinesia, Truncal ataxia, Rigidity, Dysdiad... ORPHA:309854
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Gray matter heterotopia, Retinal atrophy, Oculomotor apraxia OMIM:615960
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Spasticity, Seizure, Ataxia OMIM:617854
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy of the spinal cord, Spastic gait... ORPHA:139399
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Abnormality of retinal pigmentation, Spasticity, Delay... ORPHA:397951
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Ataxia, Cone/cone-rod dystrophy, Seizure, Optic atrophy OMIM:249270
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Spastic tetraparesis, Choroidal neovascularization, Cerebral cortical atrophy, Macular degenerati... ORPHA:404451
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Chronic axonal neuropathy, Vocal cord paresis, Decreased number of large peripher... ORPHA:99948
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Ataxia, Retinal degeneration, Optic atrophy OMIM:214980
Cockayne Syndrome Type 3
Retinal dystrophy, Retinal degeneration, Retinal hemorrhage, Astrocytosis, Intention tremor, Demy... ORPHA:90324
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapillary choriore... OMIM:613750
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Ataxia OMIM:615558
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:606693
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Machado-Joseph Disease Type 3
Cerebellar atrophy, Abnormal lower motor neuron morphology, Degeneration of the striatum, Abnorma... ORPHA:276244
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Generalized-onset seizure, Status epilepticus, Focal-onset seizure, Myoclonus ORPHA:83601
Aceruloplasminemia
Retinal degeneration, Blepharospasm, Ataxia, Cogwheel rigidity, Chorea, Torticollis, Abnormality ... OMIM:604290
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Abnormality of extrapyr... OMIM:204300
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Retinal atrophy, Rod-cone dystrophy, Hyperautofluoresc... OMIM:617406
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensory axonal neuropathy, Frequent falls, Hand tremor, Vocal cord paralysis, Babinski sign, Poor... ORPHA:99947
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Frequent falls, Cogwheel rigi... OMIM:607483
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Hand tremor, Parietal cortical atrophy, Head tremor, Lower limb spasticity, S... ORPHA:412057
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration, Seizure, Ataxia ORPHA:79320
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Athetosis, Generalized tonic seizure, Chorea, Delayed myelination OMIM:615473
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Parkinsonism, Retinal degeneration, Ataxia, Seizure, Paraparesis, Per... ORPHA:2822
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Ataxia, Paraparesis, Seizure, Optic atrophy ORPHA:27
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity OMIM:302802
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Spasticity, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Hereditary Methemoglobinemia
Cerebellar atrophy, Spastic tetraplegia, Global brain atrophy, Athetosis, Temporal cortical atrop... ORPHA:621
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, CNS hypomyelination, Spasticity, Exaggerated startle response, Delayed myelin... OMIM:618367
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Abnormal pyramidal sign, Retinal degeneration, Gait ataxia, Cerebral cortical... OMIM:248500
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration, Opisthotonus, Hypertonia OMIM:616896
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Machado-Joseph Disease Type 1
Cerebellar atrophy, Abnormal pyramidal sign, Degeneration of the striatum, Facial-lingual fascicu... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Abnormal pyramidal sign, Degeneration of the striatum, Facial-lingual fascicu... ORPHA:276241
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Retinal degeneration, Choreoathetosis, Global brain atroph... OMIM:234200
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Delayed myelination, Generalized myoclonic seizure, Spasticity OMIM:609304
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Adrenoleukodystrophy
Incoordination, Spastic paraplegia, Paraparesis, Truncal ataxia, Neurodegeneration, Limb ataxia, ... OMIM:300100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Pontocerebellar atrophy, Focal-onset seizure, Lissencephaly, Pachygyria, Facial pal... ORPHA:258
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Retinal degeneration, Ataxia, Spa... OMIM:272200
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Clumsiness ORPHA:43
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Parkinsonism, Retinal degeneration, Choreoathetosis, Intention tremor, Re... ORPHA:157850
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Oguchi Disease
Rod-cone dystrophy, Mizuo phenomenon, Macular degeneration, Congenital stationary night blindness ORPHA:75382
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Spastic tetraplegia, Athetosis, Limb hypertonia,... OMIM:617710
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal dystrophy, Ataxia, Retinal atrophy, Head titubation, Oculomotor apraxia ORPHA:370022
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Aceruloplasminemia
Parkinsonism, Retinal degeneration, Blepharospasm, Involuntary movements, Abnormality of retinal ... ORPHA:48818
Developmental And Epileptic Encephalopathy 51
Abnormal pyramidal sign, Cerebellar atrophy, Rod-cone dystrophy, Delayed myelination, Babinski si... OMIM:617339
Papillorenal Syndrome
Morning glory anomaly, Retinal detachment, Chorioretinal atrophy, Macular degeneration, Gliosis, ... OMIM:120330
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Retinal dystrophy, Macular atrophy OMIM:212550
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Vocal cord paralysis, Progressive cerebellar ataxia, Clumsiness, Abnorma... ORPHA:98757
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Bardet-Biedl Syndrome 17
Retinal degeneration, Poor coordination, Rod-cone dystrophy, Macular atrophy, Cone/cone-rod dystr... OMIM:615994
Nephronophthisis 14
Retinal degeneration OMIM:614844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Retinal degeneration, Lissencephaly, Type II lissencephaly, Seizure OMIM:615249
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Intention tremor, Cerebellar cor... ORPHA:247234
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Athetosis, Rigidity, Delayed myelination, Seizure, Optic atrophy, Myoclonus OMIM:618241
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal degeneration, Attenuation of... OMIM:615986
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Cerebellar atrophy, Athetosis, Spasticity, Delayed myelination, Seizure OMIM:617132
D-Glyceric Aciduria
Opisthotonus, Spastic tetraplegia, Cerebral cortical atrophy, Delayed myelination, Seizure, Myocl... OMIM:220120
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Japanese Encephalitis
Hypertonia, Paralysis, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Tremor, Cogwheel rigid... ORPHA:79139
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Macrogyria, Cerebral hypomyelination, Gliosis, Abnormal myelinatio... ORPHA:280210
Late-Onset Retinal Degeneration
Fundus atrophy, Peripapillary atrophy, Multifocal subretinal deposits, Choroidal neovascularizati... ORPHA:67042
Encephalocraniocutaneous Lipomatosis
Cerebral atrophy, Retinopathy, Paralysis, Rigidity, Cerebral cortical atrophy, Hemiplegia, Hemipa... ORPHA:2396
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Vocal cord paralysis, Cerebral cortical atrophy, Spasticity, Increased cup-to-di... ORPHA:500144
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... OMIM:145350
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema OMIM:617304
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Speech apraxia, Neurodegeneration, Babinski sign, Hypertonia ORPHA:79244
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Retinal atrophy, Pigmentary retinopathy, Retinal pig... ORPHA:52427
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atrophy of the spinal cord, Cerebellar atrophy, Mixed demyelinating and axonal polyneuropathy, Ab... ORPHA:466768
Retinitis Pigmentosa 51
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of... OMIM:613464
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration, Ataxia OMIM:266500
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Atrophy of the spinal cord, Peripheral demyelination, Retinal degeneration, Ata... ORPHA:79282
Bilateral Perisylvian Polymicrogyria
Focal sensory seizure, Perisylvian predominant thick cortex pachygyria, Dysmetria, Bilateral peri... ORPHA:98889
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Poor fine motor coordination, Seizure ORPHA:542306
Cockayne Syndrome
Patchy demyelination of subcortical white matter, Action tremor, Pigmentary retinopathy, Cerebral... ORPHA:191
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Tick-Borne Encephalitis
Incoordination, Paralysis, Abnormal cranial nerve morphology, Generalized-onset seizure, Tremor, ... ORPHA:297
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Spasticity, Cerebral hypomyelination, Focal impaired awareness seizure, Delay... OMIM:616683
Rift Valley Fever
Paralysis, Retinal hemorrhage, Retinal vasculitis, Paraparesis, Retinitis, Macular edema, Hemipar... ORPHA:319251
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Non-Functioning Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Vocal cord paralysis, Hypertensive retinopathy, Cr... ORPHA:94080
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis, Seizure OMIM:176000
Joubert Syndrome 6
Chorioretinal coloboma, Oculomotor apraxia, Retinal degeneration, Ataxia OMIM:610688
Paragangliomas 1
Chemodectoma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor, Vagal ... OMIM:168000
Poliomyelitis
Paralysis, Abnormal motor nerve conduction velocity, Fasciculations, Paraparesis, Hyperkinetic mo... ORPHA:2912
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Scheie Syndrome
Retinal degeneration OMIM:607016
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Neurofibromas, Spinal neurofib... OMIM:162210
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Retinal degeneration OMIM:615630
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, ... OMIM:601152
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Rod-cone dystrophy, Poor fine motor coordination, Patchy atrophy of the retinal p... ORPHA:436245
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Brown-Vialetto-Van Laere Syndrome 1
Vocal cord paralysis, Ataxia, Cranial nerve motor loss, Knee clonus, Tongue fasciculations, Facia... OMIM:211530
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Retinal arteriolar constrict... OMIM:605549
Trichothiodystrophy
Cerebral dysmyelination, Abnormal pyramidal sign, Retinal degeneration, Generalized-onset seizure... ORPHA:33364
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Athetosis, Pigmentary retinopathy, Hyperkinetic movements, Infantile spasms, Cereb... ORPHA:404454
Pineoblastoma
Retinoblastoma, Paralysis, Seizure, Papilledema ORPHA:251909
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Epiretinal membrane, Phot... OMIM:616959
Paragangliomas 3
Chemodectoma, Vocal cord paralysis, Glomus jugular tumor, Extraadrenal pheochromocytoma, Adrenal ... OMIM:605373
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:120970
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Retinal dysplasia, Retinal atrophy, Spasticity, P... OMIM:253280
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Abnormal fundus morphology, Macular dege... ORPHA:94147
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Senior-Loken Syndrome 9
Rod-cone dystrophy, Retinal dystrophy, Macular degeneration OMIM:616629
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Farber Disease
Cherry red spot of the macula, Infantile spasms, Paraparesis, Spasticity, Macular degeneration, S... ORPHA:333
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Frequent falls, Abnormality of the optic nerve, Vocal cord paresis, Head trem... ORPHA:99949
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Mucopolysaccharidosis Type 3
Central nervous system degeneration, Abnormal pyramidal sign, Retinal degeneration, Vocal cord pa... ORPHA:581
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Inhalational Botulism
Paralysis ORPHA:254504
Arnold-Chiari Malformation Type Ii
Opisthotonus, Ataxia, Paraparesis, Spasticity, Paraplegia, Polymicrogyria, Seizure ORPHA:1136
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Cerebellar atrophy, Atonic seizure, Choreoathetosis, Generalized clonic seizure,... ORPHA:1934
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Retinal degeneration, Cerebral cortical atrophy ORPHA:166035
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Glossopharyngeal Neuralgia
Schwannoma, Vocal cord paralysis, Cranial nerve compression, Seizure, Abnormal glossopharyngeal n... ORPHA:221098
Bardet-Biedl Syndrome 1
Retinal degeneration, Ataxia, Poor coordination, Rod-cone dystrophy, Hyperautofluorescent macular... OMIM:209900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment, Retinal atrophy, Pachygyri... OMIM:236670
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Cockayne Syndrome A
Cerebral atrophy, Cerebellar atrophy, Patchy demyelination of subcortical white matter, Periphera... OMIM:216400
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Retinal degeneration, Retinopathy OMIM:239000
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia ORPHA:98897
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Vocal cord paralysis, Hypertensive retinopathy, Cr... ORPHA:276621
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610283
Hurler Syndrome
Retinal degeneration, Neurodegeneration, Abnormal CNS myelination OMIM:607014
Charcot-Marie-Tooth Disease Type 4B2
Vocal cord paralysis, Myelin outfoldings, Decreased distal sensory nerve action potential, Poor f... ORPHA:99956
Andersen-Tawil Syndrome
Periodic hypokalemic paresis, Seizure, Periodic hyperkalemic paralysis, Periodic paralysis ORPHA:37553
Hyperkalemic Periodic Paralysis
Fasciculations, Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia ORPHA:682
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Gitelman Syndrome
Paralysis, Seizure, Ataxia OMIM:263800
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Pseudoxanthoma Elasticum
Optic disc drusen, Retinal hemorrhage, Choroidal neovascularization, Macular degeneration, Retina... OMIM:264800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Leukodystrophy, Paraplegia, Hemiparesis, Bilateral tonic-clonic seizure ORPHA:79124
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Werner Syndrome
Retinal degeneration OMIM:277700
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Vocal cord paresis, Fasciculations, Tremor OMIM:619574
Zika Virus Disease
Absent foveal reflex, Optic disc hypoplasia, Retinal pigment epithelial mottling, Abnormality of ... ORPHA:448237
Arachnoid Cyst
Tetraparesis, Paraparesis, Hemiparesis, Cranial nerve compression, Facial palsy, Seizure, Slurred... ORPHA:2356
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Generalized myoclonic seizure, Spastic paraplegia, Papilledema, Limb ataxia, Oculomoto... ORPHA:2072
Mucopolysaccharidosis Type 2
Retinopathy, Retinal degeneration, Motor stereotypy, Abnormality of retinal pigmentation, Decreas... ORPHA:580
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia, Tremor ORPHA:79102
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology OMIM:605808
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Vocal cord paralysis, Hypertensive retinopathy, Cr... ORPHA:29072
Xq21 Microdeletion Syndrome
Reticular pigmentary degeneration, Chorioretinal degeneration, Ataxia, Abnormal chorioretinal mor... ORPHA:1435
Arnold-Chiari Malformation Type I
Vocal cord paralysis, Abnormality of the twelfth cranial nerve, Progressive cerebellar ataxia, Ga... ORPHA:268882
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Retinal atrophy, Macular atrophy, Cone/con... ORPHA:85167
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Rod-cone dystrophy, Retinal degeneration, Hypoautofluorescent retinal lesion OMIM:250410
Bohring-Opitz Syndrome
Retinal atrophy, Lower limb hypertonia, Delayed myelination, Seizure, Optic atrophy ORPHA:97297
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Spasticity, Seizure, Unilateral vocal cord paralysis OMIM:301030
Kniest Dysplasia
Vitreoretinopathy, Rhegmatogenous retinal detachment, Retinal detachment, Lattice retinal degener... ORPHA:485
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Retinal detachment, Macular degeneration, ... ORPHA:1571
African Trypanosomiasis
Optic neuritis, Paralysis, Choreoathetosis, Involuntary movements, Fasciculations, Papilledema, H... ORPHA:3385
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Decreased distal sensory nerve action potential OMIM:606071
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Say-Barber-Miller Syndrome
Spastic paraparesis, Rod-cone dystrophy, Lower limb hypertonia, Macular degeneration, Babinski si... ORPHA:3132
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis, Decreased nerve conduction velocity ORPHA:600
Monosomy 18Q
Choreoathetosis, Abnormal retinal morphology, Poor coordination, Astrocytoma, Abnormal myelinatio... ORPHA:1600
Nephronophthisis 11
Retinal degeneration OMIM:613550
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Diffuse cerebel... ORPHA:71505
Igg4-Related Pachymeningitis
Paraparesis, Seizure, Abnormality of the optic nerve ORPHA:449427
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Macular degeneration, Retinal hemorrhage OMIM:177850
Oculodentodigital Dysplasia
Tetraparesis, Ataxia, Paraparesis, Spasticity, Seizure OMIM:164200
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Non-Specific Syndromic Intellectual Disability
Seizure, Speech apraxia, Retinal atrophy, Papilledema, Frontal cortical atrophy ORPHA:528084
Acute Transverse Myelitis
Paraparesis, Upper motor neuron dysfunction, Spasticity, Paraplegia, Babinski sign, CNS demyelina... ORPHA:139417
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98853
Gitelman Syndrome
Paralysis, Focal-onset seizure ORPHA:358
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Oculomotor apraxia ORPHA:67045
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Gait ataxia, Retinal degeneration OMIM:618479
Osteopetrosis With Renal Tubular Acidosis
Tetraparesis, Abnormal retinal morphology, Retinal atrophy, Cranial nerve compression, Optic atrophy ORPHA:2785
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Retinal dystrophy, Optic atrophy, Unilateral vocal cord paralysis ORPHA:324540
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Macular atrophy OMIM:601777
Schinzel-Giedion Syndrome
Vocal cord paralysis, Seizure, Cerebral cortical atrophy, Spasticity, Epileptic spasm, Ependymoma... ORPHA:798
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Seizure, Tremor ORPHA:91347
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Codas Syndrome
Vocal cord paresis, Seizure OMIM:600373
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Degcags Syndrome
Abnormal myelination, Vocal cord paralysis OMIM:619488
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Abnormal myelination, Retinal coloboma ORPHA:434179
Esophageal Atresia
Vocal cord paresis, Hypertonia ORPHA:1199
Williams-Beuren Syndrome
Incoordination, Retinal arteriolar tortuosity, Vocal cord paralysis, Poor coordination OMIM:194050
Alström Syndrome
Incoordination, Retinal pigment epithelial atrophy, Ataxia, Typical absence seizure, Optic disc p... ORPHA:64
Split Cord Malformation
Paraparesis ORPHA:573278

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 Cln6

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 Cln6.

No publications found that use IMPC mice or data for Cln6.

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MGI Allele Allele Type Produced
Cln6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cln6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cln6tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Cln6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cln6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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