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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 (224 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	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Cerebellar vermis atrophy	OMIM:618185
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach...	OMIM:607432
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Cerebellar vermis atrophy, Gait ataxia	OMIM:616410
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Chudley-Mccullough Syndrome	Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia	OMIM:604213
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis	OMIM:605388
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia	OMIM:615268
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal cerebellum morphology, Simplified gyral pattern, Abnormal neuron morphology	ORPHA:329228
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617133
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Ataxia	OMIM:619333
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Cerebellar hypoplasia	OMIM:618572
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Ataxia, Gray matter he...	OMIM:611603
Spinocerebellar Ataxia Type 5	Cerebellar atrophy	ORPHA:98766
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia	OMIM:618677
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Autosomal Recessive Spastic Paraplegia Type 32	Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Cerebellar cortical at...	ORPHA:171622
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia	ORPHA:423296
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Simplified gyral pattern	OMIM:613402
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia	OMIM:615945
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebella...	ORPHA:352682
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Pachygyria, 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, Progressive cerebellar ataxia, Truncal ataxia	OMIM:604432
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Gait ataxia	ORPHA:98769
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebel...	OMIM:224050
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:615705
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Cerebellar hypoplasia	ORPHA:171703
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia	OMIM:618876
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	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, Simplified gyral pattern, Cerebellar h...	OMIM:618273
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia	OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:614322
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Impaired vibration sensation in the lower lim...	OMIM:610245
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Ataxia, Dysmetria, Truncal ataxia	OMIM:616948
Spinocerebellar Ataxia 18	Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia	OMIM:607458
Spinocerebellar Ataxia 4	Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria, Distal sensory impairment	OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia	OMIM:608029
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Dysmetria	OMIM:617917
Joubert Syndrome 24	Ataxia, Pachygyria, Dysmetria, Cerebellar hypoplasia, Polymicrogyria	OMIM:616654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri...	OMIM:615181
Lissencephaly 2	Hypoplasia of the pons, 4-layered lissencephaly, Lissencephaly, Cerebellar hypoplasia	OMIM:257320
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Impaired vibration sen...	OMIM:605361
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Progressive gait ataxia, Cerebellar...	ORPHA:284332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon...	OMIM:613153
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Lissencephaly, X-Linked, 1	Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:300067
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Cerebellar hypoplasia, Limb ataxia, Truncal ataxia	OMIM:615768
Spinocerebellar Ataxia 35	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria	OMIM:613908
Spinocerebellar Ataxia 26	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:609306
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Gray matter heterotopia, Pachygyria, Cerebellar cyst	ORPHA:370980
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Abnormality of neuronal migration	OMIM:618709
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Dysmetri...	OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Gait ataxia	OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Truncal ataxia	OMIM:613728
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Truncal ataxia	ORPHA:284271
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ...	ORPHA:300573
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Simplified gyral pattern...	OMIM:616171
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Progressive ce...	OMIM:605259
Gordon Holmes Syndrome	Cerebellar atrophy, Chorea, Ataxia	OMIM:212840
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia	ORPHA:276193
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Patent ductus arteriosus, Cerebellar hypoplasia, Abnormality of neuronal...	OMIM:300049
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li...	OMIM:616212
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:617691
Crome Syndrome	Renal tubular epithelial necrosis, Cerebellar dysplasia	OMIM:218900
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Progressive cerebellar ataxia, Prog...	ORPHA:101112
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella...	OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal ...	OMIM:607250
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia	OMIM:143100
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar vermis atrophy	ORPHA:208513
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ...	ORPHA:101070
Spinocerebellar Ataxia 19	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia	OMIM:607346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:608840
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, I...	ORPHA:370022
Spinocerebellar Ataxia 15	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:606658
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gai...	ORPHA:352403
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopat...	OMIM:207950
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Spinocerebellar Ataxia 29	Cerebellar vermis hypoplasia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Nonprogres...	OMIM:117360
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:2772
Symmetrical Thalamic Calcifications	Ataxia, Abnormality of neuronal migration	ORPHA:1314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:613155
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia	OMIM:612020
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Gait ataxia	ORPHA:139480
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia	ORPHA:65285
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon...	ORPHA:370959
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment	OMIM:615217
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypoplasia of the ce...	ORPHA:2481
Intellectual Developmental Disorder, X-Linked 12	Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal migration	OMIM:300957
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Ataxia, Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:255138
Band Heterotopia	Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at...	OMIM:614575
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Periventricular nodular heterotopia, Ataxia	ORPHA:352582
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Cerebellar hypo...	OMIM:617751
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:2518
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Simplified gyral pattern, Ataxia	OMIM:620047
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Limb ataxia, Gait ataxia	OMIM:193003
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Hydrocephalus, Abnormality of neuronal migration, Mac...	ORPHA:899
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Hydrocephalus, Gray matter...	OMIM:614643
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation	OMIM:164180
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dy...	OMIM:277460
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:475
Myopathy With Extrapyramidal Signs	Ataxia, Chorea, Perisylvian polymicrogyria, Choreoathetosis, Cerebellar dysplasia	OMIM:615673
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Cntnap2-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormality of neuronal migration, Cerebellar vermis atrophy, Abnormal neuron morphology	ORPHA:163681
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel...	OMIM:613150
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria, Cerebellar hypoplasia	OMIM:617397
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Polymicrogyria, Cerebellar hypoplasia, Cerebellar dysplasia	ORPHA:500159
Holoprosencephaly 14	Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P...	OMIM:619895
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor...	OMIM:617822
Glutathionuria	Gray matter heterotopia, Dysdiadochokinesis	OMIM:231950
Vici Syndrome	Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia	ORPHA:1493
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epi...	ORPHA:157
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Cerebellar hypopl...	OMIM:618476
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuronal migration, Macr...	ORPHA:2671
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu...	ORPHA:98889
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria	OMIM:619775
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neur...	ORPHA:1454
Thanatophoric Dysplasia Type 2	Encephalocele, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migration, Holopr...	ORPHA:93274
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia	OMIM:617201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Type II lissencephaly, Meningoencephalocele, Hydrocephalus, Cere...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss...	OMIM:615287
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Cerebellar dysplasia	ORPHA:8
3C Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of neuronal migration, Dandy-Wal...	ORPHA:7
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt...	ORPHA:75857
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epi...	ORPHA:228308
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Gray matter heter...	OMIM:620024
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Patent ductus arteriosus, Hydrocephalus, Abnormality of n...	ORPHA:35107
Thanatophoric Dysplasia	Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus	ORPHA:2655
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy...	ORPHA:2211
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia	ORPHA:314679
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration	ORPHA:2754
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete...	ORPHA:468631
Coffin-Lowry Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:192
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li...	OMIM:615219
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr...	OMIM:243910
Acromelic Frontonasal Dysostosis	Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele	OMIM:603671
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Gray matter heterotopia, Chiari malformation, Pachygy...	OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Pachygyria, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Type II l...	OMIM:253280
Holoprosencephaly	Encephalocele, Chorea, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holop...	ORPHA:2162
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ataxia	OMIM:617563
Radio-Tartaglia Syndrome	Gray matter heterotopia, Ataxia	OMIM:619312
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus	ORPHA:1860
Alg11-Cdg	Gray matter heterotopia, Ataxia	ORPHA:280071
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
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Holoprosencephaly, Chiari malformation, Polymicrogyria	OMIM:618820
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Patent ductus...	OMIM:615948
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cerebellar ...	OMIM:311200
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:261236
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration	OMIM:608836
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Vici Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia	OMIM:242840
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Hepatic periportal necrosis	ORPHA:26791
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Hydrocep...	OMIM:210710
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria	OMIM:214100
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Periventricular heterotopia, Patent ductus arteriosus, Hydrocephalu...	OMIM:612289
Koolen-De Vries Syndrome	Gray matter heterotopia, Patent ductus arteriosus	OMIM:610443
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Dandy-Wal...	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	Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida	ORPHA:991
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Abnormality of neuronal migration	ORPHA:464311
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	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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