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Gene: Cln6 MGI:2159324

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Cln6tm1b(EUCOMM)Hmgu HOM Early adult 7.10×10-13
impaired glucose tolerance Cln6tm1b(EUCOMM)Hmgu HOM   Early adult 8.47×10-05
increased heart weight Cln6tm1b(EUCOMM)Hmgu HOM Early adult 6.57×10-05
decreased prepulse inhibition Cln6tm1b(EUCOMM)Hmgu HOM Early adult 4.54×10-07
decreased total body fat amount Cln6tm1b(EUCOMM)Hmgu HOM Early adult 2.97×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

27 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

4 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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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
Seizure, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral to... OMIM:204300
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Co... ORPHA:168491
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Poor fine motor coordination, Seizure, Cerebellar atrophy, Poor motor coordinat... ORPHA:79264

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Babinski sign, Hypertonia, Optic atrophy, Spa... ORPHA:225154
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Fasciculations, Tetraplegia, Gliosis, Decreased number of peripheral myelina... OMIM:604484
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Abnormal myelination, Hand tremor, Progressiv... ORPHA:401840
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Axonal degeneration, Incoordination, Tremor, Cerebellar atrophy, Frequent falls, P... OMIM:302800
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Abnormality of extrapyramidal motor fun... ORPHA:100070
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Axonal degeneration, Basal lamina onion bulb formation, Decreased num... OMIM:214400
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in c... ORPHA:204
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Progressive extrapyramidal muscular rigidi... ORPHA:282166
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis, Focal impaired awareness seizure OMIM:607341
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Paralysis, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Peripheral hypomyelination, Axonal regeneration, Decreased number of large peripheral ... OMIM:605285
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Seizure, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Seizure, Hemiparesis, Ataxia, Extrapyramidal dyskinesia,... ORPHA:71277
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, ... OMIM:600795
Developmental And Epileptic Encephalopathy 14
Generalized tonic seizure, Neuronal loss in central nervous system, Tetraplegia, Spasticity, Glio... OMIM:614959
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Abnormal cranial nerve morphology, Tongue fasciculations, Facial palsy, Basa... OMIM:601596
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Seizure, Cerebellar atrophy... OMIM:616811
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Optic neuropathy, Myoclonic spasms, Delayed myelinatio... ORPHA:478029
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, Chorea, Tremor, Cerebellar ... OMIM:208920
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Lower limb spasticity, Cerebral cortical atrophy, Limb tremor, Abnor... ORPHA:401820
Multiple Mitochondrial Dysfunctions Syndrome 5
Spasticity, Seizure, Delayed myelination, Pachygyria, Leukodystrophy, Pigmentary retinopathy OMIM:617613
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Axonal degeneration, Atrophy of the spinal cord, Diffuse axonal swelling, Clonus, ... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Fasciculations, Peripheral axonal degeneration, Axonal degeneration/regeneration, Axonal degenera... OMIM:614436
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Spasticity, Tremor, Focal motor seizure, Seizure,... ORPHA:599373
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Paraparesis, Extrapy... OMIM:105550
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia,... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Vocal cord paralysis, Decreased number of peripheral myelinated ner... OMIM:615490
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic la... OMIM:105500
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Babinski sign, Spasticity, Spastic paraplegia, Abnormal myelination ORPHA:431329
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cerebral cortical atrophy, Abnormal myelination, Hand ... ORPHA:401830
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Sensory axonal neuropathy, Decreased number of peripheral myelinated nerve f... ORPHA:98856
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Fasciculations, Abnormality of extrapyramidal motor function, As... ORPHA:275864
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Cerebral atrophy, Abnormality of extrapyramidal motor function, Delayed myelinatio... OMIM:615338
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal deg... OMIM:607706
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Appendicular spasticity, Chorea, Cerebellar vermis atrophy, Seizure, Cerebellar... OMIM:613811
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Peripheral axonal neuropathy OMIM:613710
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Diaphragmatic paralysis, Frequent falls, Axonal degeneration OMIM:620011
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Primary Angiitis Of The Central Nervous System
Seizure, Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema ORPHA:140989
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Dysgyria, Type II lissencephaly, Seizure, Gray matter heterotopia, Abnormal myelin... ORPHA:352682
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Delayed myelination, Atypical absence sei... OMIM:617391
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Bone spicule pigmentation of the retina, Abnormal peripheral nerve morphology... ORPHA:88628
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Cerebral atrophy, Facial diplegia OMIM:616286
Cerebral Cavernous Malformations 3
Paralysis, Seizure OMIM:603285
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Huntington Disease
Bradykinesia, Chorea, Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Seizu... OMIM:143100
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Cerebral atrophy, Apraxia, Resting... OMIM:615157
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno... ORPHA:275872
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Rabies
Seizure, Vocal cord paresis, Cerebral palsy ORPHA:770
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Seizure, Cere... OMIM:617672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Seizure, Axonal degeneration OMIM:618138
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Axonal degeneration, Clonus OMIM:618811
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Hypertonia, Chorea, Seizure, Spastic tetraparesis, Exaggerated startle response... OMIM:272750
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis OMIM:616287
Horner Syndrome, Congenital
Paralysis OMIM:143000
De Sanctis-Cacchione Syndrome
Optic atrophy, Babinski sign, Hypertonia, Cerebral atrophy, Global brain atrophy, Scissor gait, A... OMIM:278800
Prune1-Related Neurological Syndrome
Optic atrophy, Cerebral atrophy, Epileptic spasm, Tongue fasciculations, Seizure, Spastic tetrapa... ORPHA:544469
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Abnormality of extrapyramidal motor function, Gliosis, Seizu... OMIM:236792
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Diaphragmatic paralysis, Axo... OMIM:604320
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Brain atrophy, Seizure, Abnormal myelination ORPHA:85179
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Axonal degeneration, Re... ORPHA:909
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Optic atrophy, Hypertonia, Generalized myoclonic seizure, Chorea... ORPHA:79097
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Pontocerebellar atrophy, Lower limb spasticity, Oromotor apraxia, Spasticity, Seizu... OMIM:617854
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure... ORPHA:289266
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Epilepsia partialis continua, Hypertonia, Focal myoclonic seizure, Cerebral cor... OMIM:203700
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Limb hypertonia, Brain atrophy, Spasticity, Tremor, Seizure, Inv... ORPHA:442835
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seizure, Astrocytosis OMIM:611087
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Vocal cord paresis, Basal lamina onion bulb formation, Decreased number of periphera... OMIM:614895
Glioblastoma
Paralysis, Seizure, Glioblastoma multiforme ORPHA:360
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Tremor, Ataxia, Paraparesis ORPHA:99014
Hereditary Methemoglobinemia
Hypertonia, Global brain atrophy, Frontal cortical atrophy, Spasticity, Athetosis, Cerebellar atr... ORPHA:621
Variegate Porphyria
Paralysis OMIM:176200
Malignant Migrating Focal Seizures Of Infancy
Cerebral atrophy, Epileptic spasm, Hypertonia, Focal emotional seizure with laughing, Bilateral t... ORPHA:293181
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,... OMIM:601650
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Frequent falls, Vocal cord paresis, Clusters of axonal regeneration, D... ORPHA:101097
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Truncal ataxia, Poor fine motor coordination, Dysdiadochokinesis, Astro... ORPHA:309854
Supranuclear Palsy, Progressive, 1
Bradykinesia, Cerebral atrophy, Senile plaques, Retrocollis, Neuronal loss in central nervous sys... OMIM:601104
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Babinski sign, Spasticity, Delayed myelination, Abnormality of retinal pigmenta... ORPHA:397951
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Adrenomyeloneuropathy
Spastic gait, Babinski sign, Cerebral dysmyelination, Axonal degeneration, Spasticity, Atrophy of... ORPHA:139399
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Generalized myoclonic seizure, Brain atrophy, Spasticity, Seizure, Delayed myel... OMIM:609304
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Babinski sign, Sensory axonal neuropathy, Poor fine motor coordination, Vocal cord... ORPHA:99947
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Chorea, Seizure, Facial palsy, Frequent falls, Gai... OMIM:607483
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Demyelinating peripheral neuropathy, Poor gross motor coordination, Po... ORPHA:99948
Cockayne Syndrome Type 3
Retinal dystrophy, Demyelinating peripheral neuropathy, Astrocytosis, Peripheral axonal neuropath... ORPHA:90324
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Seizure, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis ORPHA:27
Hypokalemic Periodic Paralysis
Paralysis, Periodic hypokalemic paresis, Respiratory paralysis ORPHA:681
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Status epilepticus, Focal-onset seizure, Generalized-onset seizure ORPHA:83601
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Adrenoleukodystrophy
Limb ataxia, Incoordination, Truncal ataxia, Seizure, Paraparesis, Spastic paraplegia, Neurodegen... OMIM:300100
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Clumsiness ORPHA:43
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Pontocerebellar atrophy, Focal-onset seizure, Astrocytos... ORPHA:258
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral to... OMIM:204300
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis... ORPHA:98757
Amyotrophic Lateral Sclerosis
Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Neurodegeneration, Paralysis, Am... ORPHA:803
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:230800
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Epileptic spasm, Spasticity, Seizure, Vocal cord paralysis, Cerebral cortical atro... ORPHA:500144
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of extrapyramidal motor function, Peripheral axonal neuropathy, Frontal cortical atro... ORPHA:2822
Encephalocraniocutaneous Lipomatosis
Cerebral atrophy, Hypertonia, Tetraplegia, Spasticity, Subcortical cerebral atrophy, Seizure, Cer... ORPHA:2396
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... ORPHA:79139
Bilateral Perisylvian Polymicrogyria
Focal-onset seizure, Perisylvian predominant thick cortex pachygyria, Limb hypertonia, Oromotor a... ORPHA:98889
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Gliosis, Titubation, Ataxia, Abnormal myelination, Pachygyria, Cerebral hy... ORPHA:280210
Snakebite Envenomation
Paralysis, Pseudobulbar paralysis, Respiratory paralysis ORPHA:449285
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi... OMIM:168000
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Cranial nerve compression, Hyperten... ORPHA:94080
Rift Valley Fever
Decerebrate rigidity, Retinal hemorrhage, Paraparesis, Retinal vasculitis, Hemiparesis, Paralysis... ORPHA:319251
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Foodborne Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:228371
Tick-Borne Encephalitis
Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Focal-onset seizure, Abnormal... ORPHA:297
Neurofibromatosis, Familial Spinal
Spinal neurofibroma, Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibro... OMIM:162210
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Paraganglioma, Glomus jugular tumor... OMIM:605373
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Porphyria, Acute Intermittent
Paralysis, Seizure, Respiratory paralysis OMIM:176000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Babinski sign, Hypertonia, Fasciculations, Sensory axonal neuropathy, Diaphragmatic paralysis, Tr... ORPHA:466768
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Retinopathy, Glycosuria, Hyperglycemia, Transient neonata... ORPHA:552
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Oculomotor apraxia, Chorea, Cerebellar atrophy, Focal emotional seizure with laughing, Action tre... ORPHA:404454
Pineoblastoma
Paralysis, Papilledema, Seizure, Retinoblastoma ORPHA:251909
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Axonal degeneration/regeneration, Vocal cord paresis, Optic disc pallor OMIM:601152
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Poliomyelitis
Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Farber Disease
Brain atrophy, Seizure, Spasticity, Infantile spasms, Macular degeneration, Paraparesis, Cherry r... ORPHA:333
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial palsy, Ataxia, A... OMIM:211530
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Seizure, Vocal cord paralysis, Cranial nerve compress... ORPHA:221098
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Tongue fasciculations, Demyelinating peripheral neuropathy, Cerebellar atrophy, Fr... ORPHA:99949
Oculopharyngodistal Myopathy
Paraplegia, Vocal cord paresis ORPHA:98897
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Co... ORPHA:168491
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne... ORPHA:276621
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Andersen-Tawil Syndrome
Seizure, Periodic paralysis, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis ORPHA:37553
Inhalational Botulism
Paralysis ORPHA:254504
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Poor fine motor coordination, Seizure, Cerebellar atrophy, Poor motor coordinat... ORPHA:79264
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Hyperkalemic Periodic Paralysis
Fasciculations, Hypertonia, Periodic hyperkalemic paralysis, Cerebral palsy ORPHA:682
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Poor fine motor coordination, Tremor, Vocal cord paralysis, Myelin outfoldings ORPHA:99956
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Seizure, Vocal cord paral... OMIM:617799
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Bilateral tonic-clonic seizure, Paraparesis, Hemiparesis, Leukodystrophy ORPHA:79124
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Fasciculations, Polyminimyoclonus, Vocal cord paresis, Tremor OMIM:619574
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Retinal capillary hemangioma, Tremor, Vo... ORPHA:29072
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Gitelman Syndrome
Paralysis, Seizure, Ataxia OMIM:263800
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Paralysis ORPHA:79102
Arachnoid Cyst
Seizure, Facial palsy, Cranial nerve compression, Paraparesis, Hemiparesis, Tetraparesis, Slurred... ORPHA:2356
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Seizure, Abnormal myelination OMIM:617333
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Focal-onset seizure, Abnormal CNS myelination, Retinal arterial tortuosity, Limb hypertonia, Reti... OMIM:620371
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner... ORPHA:268882
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Hypertonia, Generalized myoclonic seizure, Oculomotor apraxia, Bilateral tonic-cloni... ORPHA:2072
Paget Disease Of Bone 2, Early-Onset
Tetraparesis, Paraparesis OMIM:602080
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Spastic tetraparesis, Cerebral palsy, Paraparesis OMIM:620358
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Monosomy 18Q
Abnormal retinal morphology, Seizure, Astrocytoma, Abnormal myelination, Poor coordination, Chore... ORPHA:1600
African Trypanosomiasis
Fasciculations, Optic neuritis, Seizure, Tremor, Involuntary movements, Hemiparesis, Papilledema,... ORPHA:3385
Mucopolysaccharidosis Type 3
Optic atrophy, Hypertonia, Spasticity, Seizure, Central nervous system degeneration, Vocal cord p... ORPHA:581
Igg4-Related Pachymeningitis
Seizure, Abnormal optic nerve morphology, Paraparesis ORPHA:449427
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis ORPHA:600
Oculodentodigital Dysplasia
Spasticity, Seizure, Paraparesis, Ataxia, Tetraparesis OMIM:164200
Acute Transverse Myelitis
Babinski sign, Paraplegia, Abnormality of extrapyramidal motor function, Spasticity, Upper motor ... ORPHA:139417
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:261
Gitelman Syndrome
Paralysis, Focal-onset seizure ORPHA:358
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Oculomotor apraxia ORPHA:67045
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis OMIM:606071
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Spasticity, Seizure, Cerebellar atrophy, Unilateral vocal cord paralysis OMIM:301030
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Unilateral vocal cord paralysis, Retinal dystrophy ORPHA:324540
Schinzel-Giedion Syndrome
Epileptic spasm, Hypertonia, Spasticity, Seizure, Vocal cord paralysis, Ependymoma, Cerebral cort... ORPHA:798
Tsh-Secreting Pituitary Adenoma
Seizure, Periodic hypokalemic paresis, Tremor ORPHA:91347
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Codas Syndrome
Seizure, Vocal cord paresis OMIM:600373
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Degcags Syndrome
Vocal cord paralysis, Abnormal myelination OMIM:619488
Acrofacial Dysostosis, Cincinnati Type
Lower limb spasticity, Seizure, Infantile spasms, Vocal cord paralysis, Abnormality of coordinati... OMIM:616462
Esophageal Atresia
Hypertonia, Vocal cord paresis ORPHA:1199
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Abnormal myelination, Retinal coloboma ORPHA:434179
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Incoordination, Vocal cord paralysis, Poor coordination OMIM:194050

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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