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Gene: Marveld1 MGI:2147570

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

MARVEL (membrane-associating) domain containing 1

Synonyms:

Mrvldc1

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 Marveld1 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 Marveld1 (0 diseases)
Human diseases predicted to be associated with Marveld1 (217 diseases)

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

The table below shows human diseases predicted to be associated to Marveld1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Inability to walk, Periventricular nodular heterotopia, Cerebellar hypoplasia	OMIM:618572
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal cerebellum morphology, Brain atrophy, Simplified gyral pattern, Abnormal neuron morphology	ORPHA:329228
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Gray matter he...	OMIM:611603
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach...	OMIM:607432
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Polymicrogyria, Simplif...	ORPHA:1083
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Cerebellar vermis atrophy	OMIM:618185
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tru...	ORPHA:98764
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia	OMIM:618677
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Abnormality of neuronal migration, Attention deficit hyperactivity disorder	OMIM:618709
Huntington Disease-Like 1	Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Dementia, Gliosis, Gait disturbance, Cognitiv...	ORPHA:157941
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Simplified gyral pattern	OMIM:613402
Lissencephaly, X-Linked, 1	Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Mental deterioration	OMIM:610951
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc...	OMIM:224050
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Cerebe...	ORPHA:370980
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp...	OMIM:618273
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ...	ORPHA:300573
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Cerebellar vermis atr...	ORPHA:98773
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Symmetrical Thalamic Calcifications	Ataxia, Abnormality of neuronal migration, Cognitive impairment	ORPHA:1314
Spinocerebellar Ataxia Type 2	Abnormal cortical gyration, Olivopontocerebellar hypoplasia, Chorea, Cerebellar Purkinje layer at...	ORPHA:98756
Joubert Syndrome 24	Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Pachygyria, Polymicrogyria	OMIM:616654
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Cerebral atrophy, Dementia, Neurodegeneration, Mental deterioration	OMIM:300894
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Co...	OMIM:607454
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ...	OMIM:616171
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Dementia, Gliosis, Neuronal loss in central nervous system	OMIM:143100
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Short attention span, Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal dementia, Fr...	ORPHA:412066
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebella...	ORPHA:352682
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Lateral ventricle dilatation, Dementia, Neurodegeneration	OMIM:615889
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ...	OMIM:117360
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormality of neuronal migration, ...	OMIM:300957
Hemimegalencephaly	Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Memory impairment, A...	ORPHA:247234
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria, Agenesis of corp...	OMIM:225790
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Neurodegeneration, Menta...	OMIM:617672
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi...	OMIM:620208
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Difficulty walking,...	OMIM:612319
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif...	OMIM:616212
Cntnap2-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal neuron morphology, Abnormality of neuronal migration, Progressive language deter...	ORPHA:163681
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotop...	OMIM:207950
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Inability to walk, Dystonic gait, Macrogyria, Titubation, Gliosis, Cerebellar hypoplasia,...	ORPHA:280210
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation	OMIM:619405
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Inability to walk, Abnormal posturing	OMIM:128100
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia	ORPHA:98771
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Patent ductus arteriosus, Cerebellar hypoplasia, Abnormality of neuronal...	OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:608840
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal...	OMIM:256600
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum	ORPHA:255138
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Cognitive impairment	ORPHA:2216
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Brain atrophy, Short stepped shuffling ...	ORPHA:391411
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Cerebellar atrophy, Akinesia, Truncal ataxia	OMIM:618249
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Neurodegeneration...	OMIM:618476
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Head titubation, Impaired proprioceptio...	OMIM:615491
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity disorder, Cogn...	ORPHA:216866
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Ataxia, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxia, Cerebral atrophy, ...	OMIM:615157
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Periventricular nodular heterotopia, Ataxia, Gait disturbance	ORPHA:352582
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Truncal titubation, Unsteady gait, Limb...	OMIM:609270
Glutathionuria	Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum	OMIM:231950
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Dementia, Falls, Gait imbalance, Loss of ambulation, S...	ORPHA:240094
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Ataxia, Reduction of oligodendroglia, Head titubatio...	OMIM:312080
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon...	ORPHA:370959
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:475
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:2772
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Aceruloplasminemia	Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia, Cognitive impairment, Abnormal dentate nucleu...	ORPHA:48818
Corticobasal Syndrome	Somatic sensory dysfunction, Akinesia, Dementia, Gait disturbance, Memory impairment	ORPHA:454887
Sporadic Infantile Bilateral Striatal Necrosis	Short attention span, Chorea, Titubation, Gait ataxia, Gait disturbance, Abnormal posturing	ORPHA:225147
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Dementia, Neurodegeneration, ...	OMIM:614298
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Cerebral atrop...	ORPHA:397946
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Mac...	ORPHA:899
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2318
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform...	OMIM:164180
Mohr-Tranebjaerg Syndrome	Mental deterioration, Abnormal posturing	OMIM:304700
Tetrasomy 18P	Gait disturbance, Abnormality of neuronal migration	ORPHA:3307
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Abnormality of neuronal migration	ORPHA:2518
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypoplasia of the ce...	ORPHA:2481
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Titubation, Di...	ORPHA:98768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Hydrocephalus, Partial age...	OMIM:614643
Man1B1-Cdg	Broad-based gait, Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Supranuclear Palsy, Progressive, 1	Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Gait imbalance, ...	OMIM:601104
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Distal sensory impairment, Dementia, Gait disturbance	OMIM:606693
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia	OMIM:617201
Vici Syndrome	Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia, Agenesis of corpus callos...	ORPHA:1493
Manganese Poisoning	Memory impairment, Gait disturbance, Confusion, Akinesia	ORPHA:306682
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neur...	ORPHA:1454
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Chorea, Dysmetria, Gait ataxia, Cerebral atrophy, Dysdi...	OMIM:610217
Fetal Akinesia Deformation Sequence	Akinesia, Dandy-Walker malformation	ORPHA:994
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Gray matter heterotopia, Lateral ventricle dilatation, Cerebellar hypop...	OMIM:617397
Hereditary Late-Onset Parkinson Disease	Akinesia, Dementia, Gliosis, Shuffling gait, Mental deterioration, Cerebral cortical atrophy	ORPHA:411602
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Abnormal posturing, Cerebral atrophy	OMIM:614857
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Social and occupational deterioration, Falls, Gait imbalance, Mental deterioration	ORPHA:240071
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Patent ductus arteriosus, Abnormality of neuronal migration, Holopr...	ORPHA:93274
Supranuclear Palsy, Progressive, 2	Akinesia, Granulovacuolar degeneration, Gliosis, Gait imbalance, Falls, Memory impairment, Neuron...	OMIM:609454
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Parkinson Disease 23, Autosomal Recessive Early-Onset	Mental deterioration, Dementia, Cerebral cortical atrophy, Akinesia	OMIM:616840
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt...	ORPHA:75857
Perry Syndrome	Frontotemporal dementia, Short stepped shuffling gait, Akinesia	OMIM:168605
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu...	ORPHA:98889
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Hypomelanosis Of Ito	Gray matter heterotopia, Cerebral atrophy	OMIM:300337
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor...	OMIM:617822
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epi...	ORPHA:157
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration	OMIM:615919
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, Agenes...	ORPHA:314679
Coffin-Lowry Syndrome	Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Cerebral cortical atrophy, Abnormality of...	ORPHA:192
Holoprosencephaly 14	Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, P...	OMIM:619895
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Cognitive impairment	OMIM:617008
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration, Gait disturbance	ORPHA:2754
Parkinson Disease 17	Akinesia	OMIM:614203
Congenital Myopathy 9A	Akinesia	OMIM:618822
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuronal migration, Macr...	ORPHA:2671
Vici Syndrome	Gray matter heterotopia, Abnormal posturing, Cerebellar vermis hypoplasia, Agenesis of corpus cal...	OMIM:242840
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, P...	OMIM:619775
Radio-Tartaglia Syndrome	Ataxia, Gray matter heterotopia, Gait imbalance, Attention deficit hyperactivity disorder, Agenes...	OMIM:619312
Alg11-Cdg	Gray matter heterotopia, Ataxia, Cerebral atrophy	ORPHA:280071
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Choreoathetosis, Dementia, Neurodegeneration, Gait disturbance, Mental deterior...	OMIM:234200
Progressive Multifocal Leukoencephalopathy	Somatic sensory dysfunction, Abnormal oligodendroglia morphology, Dysmetria, Gait ataxia, Paresth...	ORPHA:217260
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Inability to walk, Ataxia	OMIM:617563
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
3C Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of neuronal migration, Dandy-Wal...	ORPHA:7
Dpagt1-Cdg	Ataxia, Akinesia, Abnormal cerebellum morphology, Inability to walk, Cerebellar hypoplasia, Cereb...	ORPHA:86309
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epi...	ORPHA:228308
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618974
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Ataxia, Colpocephaly, Periventricular heterotopia	OMIM:619833
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Desmosterolosis	Abnormal cortical gyration, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migr...	ORPHA:35107
Postencephalitic Parkinsonism	Paresthesia, Akinesia	ORPHA:97349
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Cognitive impairment, Ataxia, Olivopontocerebellar atrophy	OMIM:146500
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Gray matter heter...	OMIM:620024
Congenital Myopathy 12	Akinesia	OMIM:612540
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Thanatophoric Dysplasia	Patent ductus arteriosus, Gray matter heterotopia, Hydrocephalus	ORPHA:2655
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Difficulty walking	ORPHA:531151
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete...	ORPHA:468631
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co...	OMIM:615219
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
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Inability to walk, Hepatic periportal necrosis, Gliosis	ORPHA:26791
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration, Cognitive impairment	ORPHA:2065
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia	OMIM:619147
Gaucher Disease, Perinatal Lethal	Akinesia, Progressive neurologic deterioration	OMIM:608013
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr...	OMIM:243910
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Cognitive impairment	ORPHA:2063
Holoprosencephaly	Encephalocele, Chorea, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holop...	ORPHA:2162
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Gray matter ...	OMIM:304050
Acromelic Frontonasal Dysostosis	Encephalocele, Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia...	OMIM:603671
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Holoprose...	OMIM:618820
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Unsteady gait, Gray matter heterotopia, Loss of ambulation, Polymicrogy...	OMIM:214100
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Abnormality of neuronal migration, Gait disturbance, Attention deficit ...	ORPHA:464311
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Periventricular heterotopia	ORPHA:98892
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:605039
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Cerebral atrophy	OMIM:618797
Periventricular Nodular Heterotopia 9	Broad-based gait, Gray matter heterotopia, Attention deficit hyperactivity disorder, Periventricu...	OMIM:618918
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Cerebral atrophy, Gray matter hetero...	OMIM:311200
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:261236
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration	OMIM:608836
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618929
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618870
Arthrogryposis Multiplex Congenita 5	Akinesia	OMIM:618947
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Unilateral Polymicrogyria	Abnormal posturing, Perisylvian polymicrogyria	ORPHA:268943
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Progress...	OMIM:210710
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Myelopathy, Impaired proprioception, Choreoathetosis, Pare...	ORPHA:3385
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Patent ductus...	OMIM:615948
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Attention defici...	OMIM:305450
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
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
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum, Impaired pain sensation	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum, Impaired pain sensation	ORPHA:352665
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Periventricular heterotopia, Hydrocephalus, Patent ...	OMIM:270400
16Q24.3 Microdeletion Syndrome	Colpocephaly, Periventricular heterotopia	ORPHA:261250
Koolen-De Vries Syndrome	Gray matter heterotopia, Patent ductus arteriosus	OMIM:610443
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Impaired pain sensation	ORPHA:453499
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Periventricular heterotopia, Patent ductus arteriosus, Hydrocephalu...	OMIM:612289
Nijmegen Breakage Syndrome	Mental deterioration, Abnormality of neuronal migration, Attention deficit hyperactivity disorder	ORPHA:647
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Agenesis ...	OMIM:236680
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis...	ORPHA:434179
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Pagod Syndrome	Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida	ORPHA:991
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens...	ORPHA:261537
Mowat-Wilson Syndrome	Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired p...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens...	ORPHA:261552
Genitopatellar Syndrome	Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:606170
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 Marveld1

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 Marveld1.

No publications found that use IMPC mice or data for Marveld1.

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.

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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