Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail movements Arcn1tm1a(EUCOMM)Hmgu HET   Early adult 2.96×10-07
increased heart weight Arcn1tm1a(EUCOMM)Hmgu HET Early adult 5.91×10-06
decreased grip strength Arcn1tm1a(EUCOMM)Hmgu HET Early adult 2.75×10-05

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.

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
Failure to thrive, Microcephaly, Decreased body weight, Gait 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
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Cerebellar Ataxia And Albinism
Albinism, Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Neurofibrillary tan... OMIM:137440
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Spastic tetr... OMIM:618174
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... OMIM:610217
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Microcephaly, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spastic... OMIM:619742
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hypopigmentation of... ORPHA:33445
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypoplasia, Trun... ORPHA:94122
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, ... OMIM:615889
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Hypoplasia of the c... OMIM:616948
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Polymicrogyria OMIM:615771
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Diffuse swelling of cerebral white matter, Ataxia, Cerebral atrophy, Cerebellar atrop... OMIM:613925
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Microcephaly, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:614322
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Iron accumulation in substantia nigra, Reti... OMIM:619389
Microcephaly, Seizures, And Developmental Delay
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar atrophy, Progressive microcep... OMIM:613402
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... OMIM:615362
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... OMIM:610245
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Hypoplasia of the corpus callosum, Spast... OMIM:617916
Gordon Holmes Syndrome
Ataxia, Cerebral atrophy, Cerebellar atrophy OMIM:212840
Ethanolaminosis
Cardiomegaly OMIM:227150
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia, Cerebellar atrophy OMIM:616187
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy OMIM:618876
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum ORPHA:1178
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Thick eyebrow, Limb ataxia, Dysmetria, Intention tremor, Ce... OMIM:616127
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Cerebral atrophy, Poor fine motor coordina... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Leukoencephalopathy, Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebella... OMIM:618387
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:608029
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Cerebral cortical atrophy, Resting tremor, Abnormal pyramidal sign, Parkinsonism, Rigid... OMIM:616840
Alzheimer Disease 3
Cerebral cortical atrophy, Myoclonus, Babinski sign, Neurofibrillary tangles, Gait disturbance, A... OMIM:607822
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Myoclonus, Parkinsonism, Neurofibrillary tangles, ... ORPHA:1020
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy, Neurofibrillary tangles OMIM:619132
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Hirsutism, Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia, Hypoplasia of the corpus callosu... OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... ORPHA:423275
Alzheimer Disease 9, Susceptibility To
Senile plaques, Cerebral cortical atrophy, Hippocampal atrophy, Neurofibrillary tangles, Abnormal... OMIM:608907
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... OMIM:615768
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Athetosis, Silver-gray hair, Spasticity, Dandy-Walker malformation OMIM:257800
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... OMIM:616053
Neurodegeneration With Brain Iron Accumulation 4
Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Neurodegeneration, Abnormal pyramidal si... OMIM:614298
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... OMIM:610357
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Neurodegeneration, Pigmentary retinopathy, Cerebellar atrophy OMIM:610951
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Cerebral calcification, Intention tremor, Tremor by anato... ORPHA:101110
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Leukoencephalopathy, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Cerebel... ORPHA:314603
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... OMIM:617672
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Hypoplasia of the corpus callosum, Gait disturbance, Trem... OMIM:618090
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... ORPHA:453521
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus OMIM:125370
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity, Cerebellar at... OMIM:210000
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Cerebral cortical atrophy, Parkinsonism, Neurofibrillary... OMIM:607485
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukoencephalopathy, Abnormal cerebellum morphology, Ataxia, Babinski sign, Difficulty walking, S... OMIM:618242
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Cerebral cortex with spongiform changes, Neurofibrillary tangles OMIM:605055
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Ataxia, Cerebral cortical atrophy, Decreased body weight, Microcephaly, Hypopl... OMIM:614559
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Hypoplasia of the corpus callosum, Tremor, Spasticity, Cere... OMIM:616494
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased neuronal autofluorescent ... OMIM:256731
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia OMIM:615217
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait ORPHA:284271
Multiple Mitochondrial Dysfunctions Syndrome 6
Leukoencephalopathy, Ataxia, Failure to thrive, Dysmetria, Spasticity, Cerebellar atrophy, Second... OMIM:617954
Spinocerebellar Ataxia, Autosomal Recessive 8
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:610743
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Cerebral atrophy, Distal sensory impairment, Cerebellar atrophy, Steppage gait OMIM:607250
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Niemann-Pick Disease, Type C1
Neuronal loss in central nervous system, Ataxia, Cataplexy, Neurofibrillary tangles, Gait ataxia,... OMIM:257220
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... OMIM:619054
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Spinocerebellar Ataxia 49
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... OMIM:619806
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Hypoplasia... OMIM:612319
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal cerebellum morphology, Abnormal pons morphology, Ataxia, Progressive cerebellar ataxia, ... ORPHA:98
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia OMIM:618501
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:617691
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hirsutism, Ataxia, Cerebral atrophy, Abnormal pyramidal sign, Hypoplasia of the corpus callosum, ... ORPHA:527497
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Joubert Syndrome 24
Ataxia, Dysmetria, Cerebellar hypoplasia, Polymicrogyria, Gait disturbance, Spasticity, Pachygyria OMIM:616654
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Cerebral atrophy, Dysmetria, Corpus callosum atrophy, Choreoathetosis, Spasticity, Cerebe... OMIM:618088
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hypertonia, Ataxia, Cerebral atrophy, Microcephaly, Myoclonus, Spasticity, Cer... OMIM:618426
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal cerebellum morphology, Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... OMIM:618317
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination OMIM:609306
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... OMIM:600223
Alzheimer Disease 2
Parkinsonism, Neurofibrillary tangles OMIM:104310
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Intention tremor, Neurofibrillary tangles, Spasticity, Cerebral amyloid angiopathy OMIM:117300
Supranuclear Palsy, Progressive, 1
Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Akinesia, Bradykinesia, ... OMIM:601104
Alzheimer Disease, Familial, 1
Parkinsonism, Neurofibrillary tangles OMIM:104300
Spinocerebellar Ataxia 17
Broad-based gait, Neuronal loss in central nervous system, Ataxia, Bradykinesia, Limb ataxia, Dys... OMIM:607136
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Spinocerebellar Ataxia Type 17
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Supranuclear Palsy, Progressive, 2
Gait imbalance, Neuronal loss in central nervous system, Akinesia, Bradykinesia, Retrocollis, Gra... OMIM:609454
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy OMIM:616267
Ataxia-Pancytopenia Syndrome
Ataxia, Dysmetria, Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, ... OMIM:159550
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... OMIM:618093
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Limb... OMIM:117360
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... ORPHA:208513
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... OMIM:600224
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... ORPHA:352403
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... ORPHA:1170
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... ORPHA:98772
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Spinocerebellar Ataxia 34
Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... OMIM:133190
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity OMIM:607625
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Low anterior hairline, Thick eyebrow, Sparse hair, Ataxia, Cerebellar hypoplasia, Part... OMIM:616819
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Atrophy of the spinal cord, Gait disturbance, Progressive spastic parapleg... OMIM:612020
Alzheimer Disease 4
Apraxia, Senile plaques, Cerebral amyloid angiopathy, Neurofibrillary tangles OMIM:606889
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Failure to thrive, Ataxia, Cerebral cortical atrophy, Hypertonia, Cerebral cal... ORPHA:3322
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait OMIM:619405
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia OMIM:614229
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Gait ataxia, Cere... OMIM:609307
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Autosomal Spastic Paraplegia Type 58
Babinski sign, Chorea, Abnormal cerebral white matter morphology, Tremor, Spasticity, Unsteady ga... ORPHA:397946
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:606658
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal basal ganglia morphology, Abnormal pons morphology, Cereb... ORPHA:1320
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Primary Progressive Freezing Gait
Gait imbalance, Cerebral cortical atrophy, Bradykinesia, Babinski sign, Rigidity, Frequent falls,... ORPHA:75567
Dyskeratosis Congenita, Autosomal Recessive 6
Failure to thrive, Ataxia, Sparse hair, Alopecia, Microcephaly, Cerebellar hypoplasia, Abnormalit... OMIM:616353
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Gait ataxia, Abnormal upper motor neuron morph... OMIM:215470
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron morphology, Waddling gait, Ub... ORPHA:52430
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait, Lewy bodies, Megal... OMIM:311510
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Spinocerebellar Ataxia 32
Ataxia, Cerebellar atrophy OMIM:613909
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Lewy bodies OMIM:619133
Parkinson Disease, Late-Onset
Neuronal loss in central nervous system, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Tr... OMIM:168600
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Epilepsy, Progressive Myoclonic, 10
Ataxia, Progressive cerebellar ataxia, Lafora bodies, Myoclonus, Spasticity, Spastic tetraplegia,... OMIM:616640
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Hypop... ORPHA:98760
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Cerebral cortical atrophy, Akine... ORPHA:411602
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ... ORPHA:171695
Gillespie Syndrome
Ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Thin corpus callosum, Postural tremor, Slurred... OMIM:206700
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Lewy bodies OMIM:614251
Parkinson Disease 21
Bradykinesia, Rigidity, Parkinsonism, Tremor, Lewy bodies OMIM:616361
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Cessation of head growth, Hypopigmentation of the skin, Hypopigmentatio... ORPHA:411515
Parkinson Disease 4, Autosomal Dominant
Weight loss, Parkinsonism, Lewy bodies OMIM:605543
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Ataxia With Vitamin E Deficiency
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... OMIM:277460
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Ataxia, Lafora bodies ORPHA:324290
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait... OMIM:168601
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Cerebellar atrophy OMIM:618541
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Ataxia, Inability to walk, Hypopigmentation of hair, Chorea, Focal T2 hyperint... ORPHA:70472
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... ORPHA:3437
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Premature graying of hair, Hypopigmentation of hair, Gait disturbance,... ORPHA:100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Dementia, Lewy Body
Parkinsonism, Lewy bodies OMIM:127750
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Thick eyebrow, Primary microcephaly, Simplified gyral pattern, Enlarged cerebellum OMIM:620047
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Cessation of head growth, Hypo... ORPHA:411511
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Cessation of head growth, Hypo... ORPHA:98794
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair ORPHA:71526
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Lafora Disease
Erratic myoclonus, Ataxia, Inability to walk, Brain atrophy, Lafora bodies, Myoclonus, Gait distu... ORPHA:501
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Classic Phenylketonuria
Hemiplegia, Hypertonia, Hypopigmentation of the skin, Cerebral calcification, Microcephaly, Hypop... ORPHA:79254
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair ORPHA:2221
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Ocular albinism, Microcephaly, Hypopigmentation of hair, Abnormal pyramidal sign, Athetos... ORPHA:2719
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Vici Syndrome
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Microcephaly, Hypopigmentation ... OMIM:242840
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Myoclonic Epilepsy Of Lafora
Gait disturbance, Myoclonus, Apraxia, Lafora bodies OMIM:254780
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, Cessation of head growth, Hypopigmentation of the skin, Hypopig... ORPHA:98795
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Ch├ędiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Ataxia, Brain atrophy, Inability t... ORPHA:167
Griscelli Syndrome Type 2
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79477
Squalene Synthase Deficiency
Polymicrogyria, Abnormality of hair pigmentation, Failure to thrive in infancy, Hypoplasia of the... OMIM:618156
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Red hair, Fair hair, Blue irides OMIM:614613
Chediak-Higashi Syndrome
Ataxia, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Neurodegeneratio... OMIM:214500
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... ORPHA:177901
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... ORPHA:398073
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Ataxia, Hypopigmentation of hair, Abnormal pyramidal sign, Spasticit... ORPHA:163746
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Brittle Cornea Syndrome
Gait disturbance, Abnormality of hair pigmentation ORPHA:90354
Syndromic Diarrhea
Woolly hair, Brittle hair, Generalized hypopigmentation, Small for gestational age, Hypopigmentat... ORPHA:84064
Short Stature-Micrognathia Syndrome
Failure to thrive, Microcephaly, Decreased body weight, Gait ataxia OMIM:617164

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.

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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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