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Gene: Arcn1 MGI:2387591

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Gene Summary

Name:
archain 1
Synonyms:
pale coat neuro,  4632432M07Rik,  delta-COP,  nur17

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail movements Arcn1tm1a(EUCOMM)Hmgu HET   Early adult 2.96×10-07
decreased grip strength Arcn1tm1a(EUCOMM)Hmgu HET Early adult 2.75×10-05
increased heart weight Arcn1tm1a(EUCOMM)Hmgu HET Early adult 6.53×10-06
preweaning lethality, complete penetrance Arcn1tm1a(EUCOMM)Hmgu HOM   Early adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Arcn1 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 Arcn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Failure to thrive, Gait ataxia, Decreased body weight, Microcephaly, Ataxia OMIM:617164

The table below shows human diseases predicted to be associated to Arcn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Myoclonus, Tre... OMIM:137440
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Ca... ORPHA:363717
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Cho... OMIM:610217
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Microcephaly, ... OMIM:619742
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Cerebellar dentate nucleus calcification, Intracerebral perivent... ORPHA:542310
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Hypopigmentation of the skin, Premature graying of hair, G... ORPHA:33445
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Cerebellar atrophy, Cerebral atrophy, Diffuse swelling of cer... OMIM:613925
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Lower limb spasticity, Abnormal... OMIM:616948
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ... OMIM:600143
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles, Myoclonus, Abnormality of extrapyramidal moto... OMIM:607822
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Eye of the tiger anomaly of globus palli... OMIM:619389
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, At... OMIM:613402
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Atrophy/Degeneration affe... OMIM:615957
Ethanolaminosis
Cardiomegaly OMIM:227150
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Thi... OMIM:616127
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Lewy bo... OMIM:616840
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Pe... OMIM:248900
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles, Myoclonus, Parkinsonism, Oculomotor apraxia, ... ORPHA:1020
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyra... OMIM:608907
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... ORPHA:423275
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Spasticity, Hypopigmentation of the skin, Athetosis, Dandy-Walker malformation OMIM:257800
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:610951
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Eye of the tiger anomaly of globus pallidus, Neurodegeneration, L... OMIM:614298
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Cerebral calcification, Gait ataxia... ORPHA:101110
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, S... OMIM:617672
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Parkinsonis... OMIM:604326
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Leukoencephalopathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremo... OMIM:618387
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul... OMIM:618088
Juvenile Huntington Disease
Broad-based gait, Neuronal loss in basal ganglia, Cerebellar atrophy, Cerebellar vermis atrophy, ... ORPHA:248111
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Frequent falls, Gait ataxia, Dysmetria, Agenesis of corpus callosum... ORPHA:453521
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Choreoathetosis OMIM:125370
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated four... OMIM:615771
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Periventricu... OMIM:615889
Multiple Mitochondrial Dysfunctions Syndrome 6
Leukoencephalopathy, Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Second... OMIM:617954
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Hypoplasia of the corpus callos... OMIM:614559
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Hypoplasia of the corpus callosum, ... OMIM:616494
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:605055
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado... OMIM:615386
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax... OMIM:600116
Niemann-Pick Disease, Type C1
Spasticity, Neurofibrillary tangles, Cataplexy, Gait ataxia, Neuronal loss in central nervous sys... OMIM:257220
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Abnormal periventr... OMIM:612319
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress... ORPHA:101112
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lewy bodies, Apraxia, Parkinsonism, Neuronal ... OMIM:607485
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Distal sensory impair... OMIM:607250
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Basal ganglia calcification, Chorea, Dysmetria, Parkins... OMIM:618317
Alzheimer Disease 2
Parkinsonism, Neurofibrillary tangles OMIM:104310
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Hypoplasia of the corpus callosum, Hirs... ORPHA:527497
Alzheimer Disease, Familial, 1
Parkinsonism, Neurofibrillary tangles OMIM:104300
Spinocerebellar Ataxia Type 17
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait ... OMIM:601104
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Neurofibrillary tangles, Ataxia, Intention tremor, Cerebral amyloid angiopathy OMIM:117300
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:606688
Supranuclear Palsy, Progressive, 2
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, ... OMIM:609454
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof... ORPHA:199351
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Dysmetria, Distal sensory im... OMIM:159550
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Spastic Ataxia 3, Autosomal Recessive
Leukoencephalopathy, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis... OMIM:611390
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo... OMIM:617145
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Hoyeraal-Hreidarsson Syndrome
Cerebral cortical atrophy, Generalized hypopigmentation of hair, Failure to thrive, Premature gra... ORPHA:3322
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Alzheimer Disease 4
Senile plaques, Apraxia, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... OMIM:620158
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Autosomal Spastic Paraplegia Type 58
Spasticity, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticollis, Unsteady gait, Erratic ... ORPHA:397946
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t... OMIM:612020
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Long eyelashes, Thick ey... OMIM:616819
Niemann-Pick Disease, Type C2
Spasticity, Neurofibrillary tangles, Cataplexy, Ataxia OMIM:607625
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of... OMIM:183086
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, L... ORPHA:75567
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Idiopathic Camptocormia
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal basal ganglia morphology, Lewy bodies, ... ORPHA:1320
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Failure to thrive, Nail dystrophy, Cerebellar hypoplasia, Microcephaly, Abnormality of ... OMIM:616353
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Lewy bodies, Rigidity, Parkinsonism, Parkinson... OMIM:311510
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Lower limb spasticity, Oculomotor apraxia, At... OMIM:604391
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Abnormal motor neuron morphology, Ubiquitin-positi... ORPHA:52430
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Lewy bodies, Rigidity, Loss of a... OMIM:168601
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal... OMIM:616267
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies, Amyotrophic lateral sclerosis OMIM:619133
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Lewy bodies, Tremor, Rigidity, Substantia nigra gli... OMIM:168600
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Distal sensory impairment, Dysmetria, Oculomotor apraxia, Ataxia, Frequent falls OMIM:615217
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Lewy bodies, Rigidity, Substantia nigra gliosis, Parkinsonism, Parkinsonism with ... OMIM:607060
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Epilepsy, Progressive Myoclonic, 10
Spasticity, Lafora bodies, Myoclonus, Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive ce... OMIM:616640
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Lewy bodies, Rigidity, Parki... ORPHA:411602
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Lewy bodies, Rigidity, Substantia nigra gliosis, Babinski ... ORPHA:171695
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Thin corpus callosum, Slurred... OMIM:206700
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Lewy bodies, Rigidity, Parkinsonism, Bradykinesia OMIM:614251
Parkinson Disease 21
Lewy bodies, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Cessation of head growth, ... ORPHA:411515
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... OMIM:277460
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss, Lewy bodies OMIM:605543
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Failure to thrive, Inability to walk, Chorea, Focal T2 hyperintense basal ganglia les... ORPHA:70472
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Cerebellar atrophy OMIM:618541
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Obesity And Hypopigmentation
Red hair OMIM:620195
Early-Onset Lafora Body Disease
Spastic tetraparesis, Lafora bodies, Myoclonus, Ataxia ORPHA:324290
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Ataxia-Telangiectasia
Spasticity, Failure to thrive, Premature graying of hair, Tremor, Gait disturbance, Multiple cafe... ORPHA:100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Dementia, Lewy Body
Parkinsonism, Lewy bodies OMIM:127750
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71526
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Cessation of head growth, ... ORPHA:411511
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Classic Phenylketonuria
Hypopigmentation of the skin, Hemiplegia, Paraplegia, Cerebral calcification, Tremor, Microcephal... ORPHA:79254
Lafora Disease
Spasticity, Inability to walk, Lafora bodies, Myoclonus, Gait disturbance, Ataxia, Erratic myoclo... ORPHA:501
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Cessation of head growth, ... ORPHA:98794
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Spasticity, Ocular albinism, Abnormality of extrapyramidal motor function,... ORPHA:2719
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Failure to thrive, Gait ataxia, Decreased body weight, Microcephaly, Ataxia OMIM:617164
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Myoclonic Epilepsy Of Lafora 1
Lafora bodies, Apraxia, Gait disturbance, Myoclonus OMIM:254780
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Cessation of head growth, ... ORPHA:98795
Chédiak-Higashi Syndrome
Iris hypopigmentation, Spastic paraplegia, Hypopigmentation of the skin, Cerebellar atrophy, Soma... ORPHA:167
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypoplasia of the corpus callosum, Abnormality of hair pigmentation... OMIM:618156
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Obesity, Blue irides OMIM:614613
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Neurodege... OMIM:214500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Vici Syndrome
Cerebellar vermis hypoplasia, Hypopigmentation of the skin, Failure to thrive, Ocular albinism, A... OMIM:242840
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica... ORPHA:177901
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Spasticity, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, H... ORPHA:163746
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Failure to thrive, Impaired temperature sensation, Obesity, Abdomin... ORPHA:398079
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Prader-Willi Syndrome
Hypopigmentation of the skin, Failure to thrive, Impaired temperature sensation, Abnormal cerebra... ORPHA:739
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Failure to thrive, Impaired temperature sensation, Increased body w... ORPHA:398069
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... ORPHA:79430
Brittle Cornea Syndrome
Gait disturbance, Abnormality of hair pigmentation ORPHA:90354
Menkes Disease
Sparse hair, Spasticity, Chorea, Microcephaly, Hypertonia, Hypopigmentation of hair, Woolly hair ORPHA:565
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Hy... ORPHA:818
Degcags Syndrome
Hypopigmentation of the skin, Failure to thrive, Premature graying of hair, Hypertrichosis, Abnor... OMIM:619488
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Cerebr... OMIM:219800

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 Arcn1

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 Arcn1.

No publications found that use IMPC mice or data for Arcn1.

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
Arcn1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Arcn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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