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Gene: Astn1 MGI:1098567

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

astrotactin 1

Synonyms:

N/A

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.

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 Astn1 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.

Human diseases associated with Astn1 (0 diseases)
Human diseases predicted to be associated with Astn1 (228 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Astn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia, Neural tube defect	OMIM:615041
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy, Periventricular nodular heterotopia	OMIM:618185
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Lissencephaly 1	Pachygyria, Cerebellar hypoplasia, Gray matter heterotopia, Agyria, Subcortical band heterotopia,...	OMIM:607432
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia	OMIM:616410
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Chudley-Mccullough Syndrome	Polymicrogyria, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Gray matter heterotopia	OMIM:604213
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis	OMIM:605388
Microlissencephaly	Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heteroto...	ORPHA:1083
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy	OMIM:615268
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal cerebellum morphology, Abnormal neuron morphology, Simplified gyral pattern	ORPHA:329228
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 24	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Ataxia	OMIM:619333
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Cerebellar hypoplasia, Periventricular nodular heterotopia	OMIM:618572
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy	OMIM:606640
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Gait ataxia, Cerebellar atrophy	ORPHA:217012
Spinocerebellar Ataxia Type 5	Cerebellar atrophy	ORPHA:98766
Lissencephaly 3	Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Ataxia, Pachyg...	OMIM:611603
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Autosomal Recessive Spastic Paraplegia Type 32	Cerebellar cortical atrophy, Impaired vibration sensation in the lower limbs, Abnormal pons morph...	ORPHA:171622
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Spinocerebellar Ataxia Type 38	Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy	ORPHA:423296
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Cerebellar hypoplasia, Hypoplasia of the pons, Lissencephaly, Periventricular ribbonlike heterotopia	OMIM:618677
Microcephaly, Seizures, And Developmental Delay	Simplified gyral pattern, Cerebellar atrophy, Ataxia	OMIM:613402
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia	OMIM:615945
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Cerebellar atrophy, Chiari type I malformation, Impaired distal proprioception, Impaired ...	OMIM:619742
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Cerebellar hypoplasia, Hydrocephalus, G...	ORPHA:352682
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Pachygyria, Cerebellar atrophy, Lissencephaly, Polymicrogyria	OMIM:618730
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:611694
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia	OMIM:614706
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:604432
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Gait ataxia, Ataxia	ORPHA:98769
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Pachygyria, Gait ataxia, Dysmetria, Ce...	OMIM:224050
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Gait ataxia, Ataxia	OMIM:615705
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Polymicrogyria	ORPHA:171703
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Perisylvian polymicrog...	OMIM:616531
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Ataxia, Dysdi...	OMIM:616291
Acalvaria	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bif...	ORPHA:945
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Ataxia	OMIM:618876
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia	OMIM:600143
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Cerebellar hypoplasia, Truncal ataxia,...	OMIM:618273
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia	OMIM:616187
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Lissencephaly 5	Cerebellar vermis hypoplasia, Occipital encephalocele, Type II lissencephaly, Cerebellar hemisphe...	OMIM:615191
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Gray matter heterot...	OMIM:615960
Spinocerebellar Ataxia, Autosomal Recessive 22	Truncal ataxia, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:616948
Spinocerebellar Ataxia 18	Progressive gait ataxia, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria	OMIM:607458
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Progressive cerebellar ataxia	ORPHA:276193
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia	OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia	OMIM:608029
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Dysmetria, Ataxia	OMIM:617917
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ...	ORPHA:101112
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar h...	OMIM:615181
Joubert Syndrome 24	Polymicrogyria, Dysmetria, Cerebellar hypoplasia, Ataxia, Pachygyria	OMIM:616654
Lissencephaly 2	Cerebellar hypoplasia, Hypoplasia of the pons, Lissencephaly, 4-layered lissencephaly	OMIM:257320
Spinocerebellar Ataxia 14	Cerebellar atrophy, Gait ataxia, Dysmetria, Impaired vibration sensation at ankles, Progressive c...	OMIM:605361
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Progressive gait ataxia, Progressive ce...	ORPHA:284332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar cy...	OMIM:613153
Lissencephaly, X-Linked, 1	Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Joubert Syndrome 30	Cerebellar atrophy, Polymicrogyria, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy...	OMIM:617622
Tremor, Hereditary Essential, 6	Cerebellar atrophy	OMIM:618866
Spinocerebellar Ataxia 35	Impaired proprioception, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:613908
Spinocerebellar Ataxia 26	Truncal ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:609306
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Cerebellar atrophy	OMIM:615768
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus, Ataxia	OMIM:618709
Spinocerebellar Ataxia 27B, Late-Onset	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:620174
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Impaired distal p...	OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 14	Gait ataxia, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy	OMIM:615386
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Pachygyria, Gray matter heterotopia, ...	ORPHA:300573
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Truncal ataxia	OMIM:613728
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Truncal ataxia, Limb ataxia, Cerebellar atrophy, Ataxia	ORPHA:284271
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Hypoplasia of the pons, Periventricular heterotopia, Cerebellar hypoplasia, S...	OMIM:616171
Gordon Holmes Syndrome	Chorea, Cerebellar atrophy, Ataxia	OMIM:212840
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Ataxia, Truncal ataxia	OMIM:614229
Leber Congenital Amaurosis	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele	ORPHA:65
Periventricular Nodular Heterotopia 1	Cerebellar hypoplasia, Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus ...	OMIM:300049
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, ...	OMIM:616212
Spinocerebellar Ataxia 44	Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Dysdiadochokinesis	OMIM:617691
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Cerebellar cyst, Gray matter heterotopia, Cerebellar atrophy	ORPHA:370980
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Distal sensory impairment, Impaired dis...	OMIM:607250
Huntington Disease	Chorea, Gait ataxia, Cerebellar atrophy	OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Ataxia, Truncal ataxia, Dy...	OMIM:616204
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria	ORPHA:101029
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Ataxia, Dysdiadochokinesis	ORPHA:208513
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Cerebellar dysplasia, Hypoplasia of...	ORPHA:101070
Spinocerebellar Ataxia 19	Cerebellar atrophy, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:607346
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Cerebellar hypoplasia, Abnormality of neuronal migration, Pachygyria	OMIM:608840
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Spinocerebellar Ataxia 15	Truncal ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:606658
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Hydrocephalus, Spina bifida, Ataxia, ...	OMIM:207950
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal ataxia, Dysdiadochokinesis, Progr...	ORPHA:352403
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Cerebellar atrophy, Limb ataxia, Dysmetria, Progressive gait ataxia...	ORPHA:284324
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Spinocerebellar Ataxia 29	Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebellar vermis atrophy, Limb ataxia,...	OMIM:117360
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, Cerebellar atrophy, 4-layered lissencephaly	ORPHA:89844
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spinocerebellar ...	OMIM:215470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Hydrocephalus	OMIM:613155
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep...	OMIM:604317
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Ataxia	ORPHA:1314
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum	ORPHA:2772
Spinocerebellar Ataxia 13	Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Impaired distal vibration sensation...	OMIM:605259
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia	OMIM:612020
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Autosomal Recessive Spastic Paraplegia Type 39	Gait ataxia, Cerebellar atrophy	ORPHA:139480
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Dilated f...	ORPHA:370959
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology	OMIM:300957
Pyruvate Dehydrogenase E1-Beta Deficiency	Cerebellar hypoplasia, Periventricular heterotopia, Pachygyria, Ataxia	ORPHA:255138
Ataxia-Oculomotor Apraxia 3	Distal sensory impairment, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:615217
Neurocutaneous Melanocytosis	Chiari malformation, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Men...	ORPHA:2481
Lhermitte-Duclos Disease	Polymicrogyria, Enlarged cerebellum, Hydrocephalus, Ataxia	ORPHA:65285
Band Heterotopia	Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Subependymal Nodular Heterotopia	Acroparesthesia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Nasofrontal encephalo...	ORPHA:101030
Familial Infantile Myoclonic Epilepsy	Periventricular nodular heterotopia, Cerebellar atrophy, Ataxia	ORPHA:352582
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Polymicrogyria, Cerebellar dys...	OMIM:617751
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum	ORPHA:2518
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:193003
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Simplified gyral pattern, Ataxia	OMIM:620047
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Cerebellar hypoplasia, Hydro...	OMIM:614643
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation	OMIM:164180
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Ataxia, Dysdiadoch...	OMIM:277460
Walker-Warburg Syndrome	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Cerebellar hypoplasia, Abnormality of ...	ORPHA:899
Hemimegalencephaly	Pachygyria, Abnormal neuron morphology, Gray matter heterotopia, Polymicrogyria	ORPHA:99802
Joubert Syndrome	Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Abnormality of neuronal migration, H...	ORPHA:475
Myopathy With Extrapyramidal Signs	Cerebellar dysplasia, Chorea, Ataxia, Choreoathetosis, Perisylvian polymicrogyria	OMIM:615673
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology, Ataxia	ORPHA:163681
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, At...	ORPHA:2318
Pseudo-Torch Syndrome 2	Cerebellar hypoplasia, Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria	OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Type II lissencephaly, Cerebellar dysplasia, Encephalocele, Cerebellar hypoplasia, Hydrocephalus,...	OMIM:613150
Holoprosencephaly 14	Alobar holoprosencephaly, Cerebellar atrophy, Periventricular heterotopia, Hydrocephalus, Partial...	OMIM:619895
Alkuraya-Kucinskas Syndrome	Lissencephaly, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Gray matter heterotopi...	OMIM:617822
Glutathionuria	Gray matter heterotopia, Dysdiadochokinesis	OMIM:231950
Vici Syndrome	Cerebellar hypoplasia, Gray matter heterotopia, Hypoplasia of the pons	ORPHA:1493
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon	OMIM:601374
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick...	ORPHA:98889
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Cerebellar hypoplasia, Chiari type I malformation, Hydrocephalus, At...	OMIM:618476
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, P...	ORPHA:157
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Occipital encephalocele, Abnormality of neuronal migration, Aplasia...	ORPHA:1454
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria	OMIM:619775
Neu-Laxova Syndrome	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Cerebellar hypoplasia, Abnormality of ...	ORPHA:2671
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Patent ductus...	ORPHA:93274
Periventricular Nodular Heterotopia 7	Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia, Ataxia	OMIM:617201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Cerebellar malformation, Cerebell...	OMIM:236670
47,Xyy Syndrome	Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus	ORPHA:8
3C Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Dandy-Wal...	ORPHA:7
6Q Terminal Deletion Syndrome	Polymicrogyria, Periventricular heterotopia, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Abnor...	ORPHA:75857
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Type II lissencephaly, Communicating hydrocephalus, Cerebellar hypoplasi...	OMIM:615287
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, P...	ORPHA:228308
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Abnormality of neuronal migration, Ataxia, Pachygyria, Dandy-Walker malformation	OMIM:251300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebellar vermis hypoplasia, Frontal polymicrogyria, Pachygyria, Gray matter heterotopia, Patent...	OMIM:620024
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Patent ductus arteriosus	ORPHA:2655
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia	ORPHA:314679
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Periventricular heterotopia, Cerebell...	ORPHA:468631
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Ataxia	ORPHA:2754
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum	ORPHA:192
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pac...	ORPHA:35107
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gy...	OMIM:615219
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Arima Syndrome	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ataxia, Gray matter heterotopia, Agenesis...	OMIM:243910
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria	ORPHA:2065
Aicardi Syndrome	Cerebellar vermis hypoplasia, Chiari malformation, Polymicrogyria, Spina bifida, Pachygyria, Gray...	OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus...	OMIM:253280
Holoprosencephaly	Spinal dysraphism, Chorea, Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia o...	ORPHA:2162
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ataxia	OMIM:617563
Radio-Tartaglia Syndrome	Gray matter heterotopia, Ataxia	OMIM:619312
Alg11-Cdg	Gray matter heterotopia, Ataxia	ORPHA:280071
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Patent ductus arteriosus	ORPHA:1860
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia, Cerebellar vermis hypoplasia, Patent ductus arteriosus	OMIM:620654
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Bohring-Opitz Syndrome	Gray matter heterotopia, Dandy-Walker malformation	OMIM:605039
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cerebellar ...	OMIM:311200
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero...	OMIM:601390
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Holoprosencephaly, Chiari malformation, Polymicrogyria	OMIM:618820
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Periventricular heterotopi...	OMIM:615948
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Holoprosencephaly	ORPHA:261236
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Retrocerebellar cyst, Encephalocele	OMIM:603671
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia, Patent ductus arteriosus	OMIM:620475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Polymicrogyria	OMIM:608836
Vici Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia	OMIM:242840
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria	OMIM:214100
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Polymicrogyria, Pachygyria, Microlissen...	OMIM:210710
Koolen-De Vries Syndrome	Gray matter heterotopia, Patent ductus arteriosus	OMIM:610443
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Periventricular heterotopia, Cerebellar hypoplasia, Hydrocephalus, ...	OMIM:612289
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Gray matter heterotopia, Anencephaly, Dandy-Walker malformation, Seve...	OMIM:236680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Impaired pain sensation	ORPHA:453499
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hydrocephalus	OMIM:305450
Pagod Syndrome	Abnormality of neuronal migration, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration, Patent ductus arteriosus	ORPHA:464311
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly	ORPHA:3186
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Impaired pain sensation	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Impaired pain sensation	ORPHA:352665
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Proteus Syndrome	Gray matter heterotopia	ORPHA:744

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 Astn1

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 Astn1.

No publications found that use IMPC mice or data for Astn1.

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
Astn1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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