Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases predicted to be associated to Cyth1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Pelizaeus-Merzbacher disease | Abnormal CNS myelination, Leukodystrophy | DECIPHER:38 | |
Pelizaeus-Merzbacher Disease, Transitional Form | CNS hypomyelination | ORPHA:280224 | |
Hypomyelination-Congenital Cataract Syndrome | Cerebral hypomyelination | ORPHA:85163 | |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome | CNS hypomyelination | ORPHA:88637 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 | Cavitating leukodystrophy | OMIM:619061 | |
Charcot-Marie-Tooth Disease, Type 4A | Decreased number of peripheral myelinated nerve fibers, CNS hypomyelination, Onion bulb formation... | OMIM:214400 | |
Leukodystrophy, Hypomyelinating, 11 | Leukodystrophy, CNS hypomyelination | OMIM:616494 | |
Null Syndrome | Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination | ORPHA:280234 | |
Adult-onset autosomal dominant leukodystrophy (ADLD) | Peripheral demyelination, Leukodystrophy | DECIPHER:59 | |
Developmental And Epileptic Encephalopathy 86 | CNS hypomyelination | OMIM:618910 | |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy | CNS hypomyelination | OMIM:619688 | |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy | Leukodystrophy, CNS hypomyelination | OMIM:617560 | |
Methionine Adenosyltransferase I/Iii Deficiency | CNS demyelination, Peripheral demyelination | OMIM:250850 | |
Multiple Mitochondrial Dysfunctions Syndrome 4 | Leukodystrophy | OMIM:616370 | |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia | Leukodystrophy | OMIM:616763 | |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome | Cerebral hypomyelination, CNS hypomyelination | ORPHA:369939 | |
Developmental And Epileptic Encephalopathy 79 | CNS hypomyelination | OMIM:618559 | |
Developmental And Epileptic Encephalopathy 78 | CNS hypomyelination | OMIM:618557 | |
Leukodystrophy, Hypomyelinating, 5 | Onion bulb formation, Leukodystrophy, CNS hypomyelination | OMIM:610532 | |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy | Leukodystrophy, CNS hypomyelination | ORPHA:527497 | |
Deafness, Dystonia, And Cerebral Hypomyelination | Cerebral hypomyelination | OMIM:300475 | |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties | Delayed CNS myelination, CNS hypomyelination | OMIM:616158 | |
Leukodystrophy, Hypomyelinating, 22 | CNS hypomyelination | OMIM:619328 | |
Kaya-Barakat-Masson Syndrome | CNS hypomyelination | OMIM:619125 | |
Developmental And Epileptic Encephalopathy 5 | CNS hypomyelination | OMIM:613477 | |
Leukodystrophy, Childhood-Onset, Remitting | Leukodystrophy | OMIM:619864 | |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities | Delayed CNS myelination, CNS hypomyelination | OMIM:616577 | |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity | CNS hypomyelination | OMIM:615281 | |
Leukoencephalopathy With Vanishing White Matter 1 | Cerebral hypomyelination, CNS demyelination | OMIM:603896 | |
Autosomal Recessive Spastic Paraplegia Type 44 | CNS hypomyelination | ORPHA:320401 | |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy | CNS hypomyelination | OMIM:615760 | |
Leukodystrophy, Hypomyelinating, 15 | Leukodystrophy, CNS hypomyelination | OMIM:617951 | |
Spasticity, Childhood-Onset, With Hyperglycinemia | Leukodystrophy | OMIM:616859 | |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures | CNS hypomyelination | OMIM:620023 | |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism | Leukodystrophy, CNS hypomyelination | OMIM:607694 | |
Leukoencephalopathy, Brain Calcifications, And Cysts | Leukodystrophy | OMIM:614561 | |
Huppke-Brendel Syndrome | CNS hypomyelination | OMIM:614482 | |
Multiple Mitochondrial Dysfunctions Syndrome 5 | Delayed myelination, Leukodystrophy | OMIM:617613 | |
Leukodystrophy, Hypomyelinating, 6 | Cerebral hypomyelination, Leukodystrophy | OMIM:612438 | |
Hereditary Methemoglobinemia | Cerebral hypomyelination, Delayed myelination | ORPHA:621 | |
Peroxisome Biogenesis Disorder 11A (Zellweger) | CNS hypomyelination | OMIM:614883 | |
Leukodystrophy, Hypomyelinating, 2 | Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy | OMIM:608804 | |
Spastic Paraplegia 44, Autosomal Recessive | CNS hypomyelination | OMIM:613206 | |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy | Leukodystrophy | OMIM:619196 | |
Alg2-Cdg | Cerebral hypomyelination | ORPHA:79326 | |
Developmental And Epileptic Encephalopathy 93 | CNS hypomyelination | OMIM:618012 | |
Giant Axonal Neuropathy | CNS hypomyelination | ORPHA:643 | |
Ddost-Cdg | CNS hypomyelination | ORPHA:300536 | |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism | Cerebral hypomyelination, Leukodystrophy, CNS hypomyelination | OMIM:614381 | |
Neurodevelopmental Disorder With Language Delay And Seizures | CNS hypomyelination | OMIM:619908 | |
Leukodystrophy, Hypomyelinating, 10 | Leukodystrophy, CNS hypomyelination | OMIM:616420 | |
Orofaciodigital Syndrome Xvii | CNS hypomyelination | OMIM:617926 | |
Folinic Acid-Responsive Seizures | Cerebral hypomyelination, Delayed myelination | ORPHA:79097 | |
Pelizaeus-Merzbacher Disease | Sudanophilic leukodystrophy, Abnormal CNS myelination, Cerebral dysmyelination, CNS hypomyelination | OMIM:312080 | |
Lissencephaly 8 | Cerebral hypomyelination | OMIM:617255 | |
Tremor-Ataxia-Central Hypomyelination Syndrome | Leukodystrophy, CNS hypomyelination | ORPHA:447896 | |
Developmental And Epileptic Encephalopathy 4 | Cerebral hypomyelination, Delayed CNS myelination | OMIM:612164 | |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia | CNS hypomyelination | OMIM:619286 | |
Developmental And Epileptic Encephalopathy 75 | CNS hypomyelination | OMIM:618437 | |
Retinal Dystrophy With Leukodystrophy | CNS hypomyelination | OMIM:618863 | |
Glutamine Deficiency, Congenital | CNS hypomyelination | OMIM:610015 | |
Microcephaly-Capillary Malformation Syndrome | Delayed myelination, CNS hypomyelination | OMIM:614261 | |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis | Delayed CNS myelination, CNS hypomyelination | OMIM:619260 | |
4H Leukodystrophy | Cerebral hypomyelination | ORPHA:289494 | |
Adenylosuccinase Deficiency | Cerebral hypomyelination, CNS hypomyelination | OMIM:103050 | |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects | Leukodystrophy, CNS hypomyelination | OMIM:619576 | |
Neuropathy, Congenital Hypomyelinating, 3 | CNS hypomyelination | OMIM:618186 | |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy | CNS hypomyelination, Severe demyelination of the white matter | ORPHA:481152 | |
Immunodeficiency 26 With Or Without Neurologic Abnormalities | CNS hypomyelination | OMIM:615966 | |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies | CNS hypomyelination | OMIM:618622 | |
Developmental And Epileptic Encephalopathy 29 | CNS hypomyelination | OMIM:616339 | |
Combined Oxidative Phosphorylation Deficiency 24 | CNS hypomyelination | OMIM:616239 | |
Combined Oxidative Phosphorylation Deficiency 11 | Delayed myelination, CNS hypomyelination | OMIM:614922 | |
Leukodystrophy, Hypomyelinating, 12 | Cerebral hypomyelination, Delayed myelination | OMIM:616683 | |
Pelizaeus-Merzbacher Disease In Female Carriers | CNS hypomyelination | ORPHA:280229 | |
Developmental And Epileptic Encephalopathy 71 | CNS demyelination | OMIM:618328 | |
Combined Oxidative Phosphorylation Deficiency 53 | CNS hypomyelination | OMIM:619423 | |
Juvenile Amyotrophic Lateral Sclerosis | Amyotrophic lateral sclerosis, CNS hypomyelination | ORPHA:300605 | |
Sandhoff Disease, Infantile Form | CNS hypomyelination | ORPHA:309155 | |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy | Cerebral hypomyelination | ORPHA:438114 | |
Combined Saposin Deficiency | CNS demyelination | OMIM:611721 | |
S-Adenosylhomocysteine Hydrolase Deficiency | Delayed myelination, CNS hypomyelination | ORPHA:88618 | |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features | CNS hypomyelination | OMIM:618527 | |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures | Delayed CNS myelination, CNS hypomyelination | OMIM:619580 | |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy | Cerebral hypomyelination | OMIM:612949 | |
Pelizaeus-Merzbacher Disease, Connatal Form | Cerebral hypomyelination, Abnormal myelination | ORPHA:280210 | |
Leukoencephalopathy, Cystic, Without Megalencephaly | Abnormal CNS myelination | OMIM:612951 | |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome | Abnormal CNS myelination | ORPHA:521390 | |
Peroxisomal Acyl-Coa Oxidase Deficiency | CNS demyelination, Leukodystrophy | OMIM:264470 | |
Dermatoleukodystrophy | Leukodystrophy | OMIM:221790 | |
Gaba-Transaminase Deficiency | Leukodystrophy | OMIM:613163 | |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile | Delayed CNS myelination, Leukodystrophy | OMIM:618688 | |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum | CNS hypomyelination | OMIM:617193 | |
Marbach-Rustad Progeroid Syndrome | CNS hypomyelination | OMIM:619322 | |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies | Abnormal CNS myelination | OMIM:611555 | |
Pelizaeus-Merzbacher Disease, Classic Form | Cerebral hypomyelination | ORPHA:280219 | |
Sandhoff Disease | CNS hypomyelination | OMIM:268800 | |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay | Delayed CNS myelination | OMIM:618832 | |
Spinocerebellar Ataxia 23 | CNS demyelination | OMIM:610245 | |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 | Leukodystrophy, CNS hypomyelination | OMIM:619708 | |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities | CNS hypomyelination | OMIM:618922 | |
Metachromatic Leukodystrophy Due To Saposin B Deficiency | CNS demyelination, Peripheral demyelination | OMIM:249900 | |
Mitochondrial Complex I Deficiency, Nuclear Type 15 | CNS demyelination | OMIM:618237 | |
Mitochondrial Complex I Deficiency, Nuclear Type 21 | Leukodystrophy | OMIM:618242 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Cerebral hypomyelination, Delayed CNS myelination, CNS hypomyelination | OMIM:618367 | |
Chromosome 8Q21.11 Deletion Syndrome | CNS hypomyelination | OMIM:614230 | |
Abetalipoproteinemia | CNS demyelination, Peripheral demyelination | OMIM:200100 | |
Multiple Sclerosis, Susceptibility To | CNS demyelination | OMIM:126200 | |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome | Abnormal CNS myelination | ORPHA:477673 | |
Leukodystrophy, Hypomyelinating, 17 | Leukodystrophy | OMIM:618006 | |
Frontal Encephalocele | Leukodystrophy | ORPHA:1931 | |
Hyperphosphatasia-Intellectual Disability Syndrome | Cerebral hypomyelination | ORPHA:247262 | |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia | CNS hypomyelination | OMIM:619306 | |
Neurodegeneration With Brain Iron Accumulation 7 | Leukodystrophy | OMIM:617916 | |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form | Cerebral hypomyelination, Delayed myelination | ORPHA:79351 | |
Fucosidosis | CNS hypomyelination | OMIM:230000 | |
Aicardi-Goutieres Syndrome 6 | Leukodystrophy | OMIM:615010 | |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome | Cerebral hypomyelination | ORPHA:457351 | |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures | CNS hypomyelination | OMIM:614501 | |
Leukodystrophy, Hypomyelinating, 16 | Delayed CNS myelination, Leukodystrophy | OMIM:617964 | |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 | CNS demyelination | OMIM:618193 | |
Combined Oxidative Phosphorylation Deficiency 13 | Leukodystrophy | OMIM:614932 | |
Allan-Herndon-Dudley Syndrome | Delayed CNS myelination, Leukodystrophy | OMIM:300523 | |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 | CNS hypomyelination | OMIM:615356 | |
Pyruvate Carboxylase Deficiency | Delayed myelination, CNS hypomyelination | ORPHA:3008 | |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome | Cerebral hypomyelination | ORPHA:496641 | |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia | Delayed CNS myelination, Leukodystrophy | OMIM:620269 | |
Mitochondrial Complex I Deficiency, Nuclear Type 4 | Leukodystrophy | OMIM:618225 | |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 | CNS demyelination | OMIM:221820 | |
Leukodystrophy, Hypomyelinating, 3 | Sudanophilic leukodystrophy, Leukodystrophy | OMIM:260600 | |
Leukodystrophy, Hypomyelinating, 24 | Leukodystrophy | OMIM:619851 | |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus | CNS demyelination, Delayed CNS myelination | OMIM:619653 | |
Schilder Disease | CNS demyelination | ORPHA:59298 | |
Krabbe Disease | CNS demyelination, Peripheral demyelination | OMIM:245200 | |
Waardenburg Syndrome, Type 2E | Cerebral hypomyelination | OMIM:611584 | |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 | Leukodystrophy | OMIM:619224 | |
Aicardi-Goutieres Syndrome 5 | Leukodystrophy | OMIM:612952 | |
2,4-Dienoyl-Coa Reductase Deficiency | Delayed CNS myelination, Leukodystrophy | OMIM:616034 | |
Waardenburg Syndrome, Type 4A | Leukodystrophy | OMIM:277580 | |
Leukodystrophy, Hypomyelinating, 4 | Leukodystrophy | OMIM:612233 | |
Hengel-Maroofian-Schols Syndrome | Abnormal CNS myelination | OMIM:619641 | |
Pyruvate Carboxylase Deficiency | Leukodystrophy | OMIM:266150 | |
Aicardi-Goutieres Syndrome 4 | Leukodystrophy | OMIM:610333 | |
Sjogren-Larsson Syndrome | CNS demyelination | OMIM:270200 | |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion | CNS hypomyelination | ORPHA:268261 | |
Mitochondrial Complex I Deficiency, Nuclear Type 5 | Leukodystrophy | OMIM:618226 | |
Multiple Mitochondrial Dysfunctions Syndrome 3 | Leukodystrophy | OMIM:615330 | |
Dpagt1-Cdg | CNS hypomyelination | ORPHA:86309 | |
Cerebrooculofacioskeletal Syndrome 1 | CNS demyelination, Delayed myelination | OMIM:214150 | |
Peroxisome Biogenesis Disorder 8B | Peripheral demyelination, Leukodystrophy | OMIM:614877 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Abnormal CNS myelination | OMIM:619053 | |
Childhood-Onset Spasticity With Hyperglycinemia | Leukodystrophy | ORPHA:401866 | |
Trigeminal Neuralgia | CNS demyelination, Peripheral demyelination | ORPHA:221091 | |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | Symmetric peripheral demyelination, Leukodystrophy | OMIM:169500 | |
Leukodystrophy, Hypomyelinating, 13 | Delayed CNS myelination, Leukodystrophy | OMIM:616881 | |
Leigh Syndrome | CNS demyelination | OMIM:256000 | |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome | Cerebral hypomyelination | ORPHA:447997 | |
Leukodystrophy, Hypomyelinating, 9 | Leukodystrophy | OMIM:616140 | |
Combined Oxidative Phosphorylation Deficiency 4 | Leukodystrophy | OMIM:610678 | |
Wiedemann-Rautenstrauch Syndrome | Leukodystrophy, CNS hypomyelination | ORPHA:3455 | |
Late-Infantile/Juvenile Krabbe Disease | Abnormal CNS myelination | ORPHA:206443 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 | Leukodystrophy | OMIM:619051 | |
Leukodystrophy, Progressive, Early Childhood-Onset | Leukodystrophy | OMIM:617762 | |
Canavan Disease | CNS demyelination | OMIM:271900 | |
Orofaciodigital Syndrome Xiv | CNS hypomyelination | OMIM:615948 | |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | Leukodystrophy | OMIM:614299 | |
Marchiafava-Bignami Disease | CNS demyelination | ORPHA:221074 | |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome | Cerebral hypomyelination | ORPHA:513456 | |
Rere-Related Neurodevelopmental Syndrome | CNS demyelination | ORPHA:494344 | |
Hyperglycinemia, Lactic Acidosis, And Seizures | Leukodystrophy | OMIM:614462 | |
Isolated Sedoheptulokinase Deficiency | Abnormal CNS myelination | ORPHA:440713 | |
Biliary, Renal, Neurologic, And Skeletal Syndrome | CNS hypomyelination | OMIM:619534 | |
Combined Oxidative Phosphorylation Defect Type 23 | Leukodystrophy | ORPHA:444013 | |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency | Leukodystrophy | ORPHA:431361 | |
Alg8-Cdg | Leukodystrophy | ORPHA:79325 | |
Adult Krabbe Disease | CNS demyelination, Peripheral demyelination | ORPHA:206448 | |
Peroxisome Biogenesis Disorder 6B | Leukodystrophy | OMIM:614871 | |
Multiple Sulfatase Deficiency | CNS demyelination, Peripheral demyelination | OMIM:272200 | |
Peroxisome Biogenesis Disorder 12A (Zellweger) | CNS demyelination | OMIM:614886 | |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) | Delayed CNS myelination, Leukodystrophy | OMIM:615471 | |
Immunodeficiency 23 | Abnormal CNS myelination | OMIM:615816 | |
Progressive Multifocal Leukoencephalopathy | CNS demyelination | ORPHA:217260 | |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy | Leukodystrophy | ORPHA:370997 | |
Xeroderma Pigmentosum, Complementation Group B | Abnormal CNS myelination | OMIM:610651 | |
Hurler Syndrome | Abnormal CNS myelination | OMIM:607014 | |
Aicardi-Goutieres Syndrome 1 | CNS demyelination | OMIM:225750 | |
Secondary Syringomyelia | CNS demyelination | ORPHA:99857 | |
X-Linked Cerebral Adrenoleukodystrophy | CNS demyelination, Diffuse demyelination of the cerebral white matter | ORPHA:139396 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Leukodystrophy | OMIM:616538 | |
Metachromatic Leukodystrophy, Late Infantile Form | Leukodystrophy | ORPHA:309256 | |
Glycogen Storage Disease Ii | Abnormal CNS myelination | OMIM:232300 | |
Acute Disseminated Encephalomyelitis | CNS demyelination | ORPHA:83597 | |
Metachromatic Leukodystrophy, Juvenile Form | Leukodystrophy | ORPHA:309263 | |
Leigh Syndrome | Leukodystrophy | ORPHA:506 | |
Hemophagocytic Lymphohistiocytosis, Familial, 2 | CNS demyelination | OMIM:603553 | |
Peroxisome Biogenesis Disorder 1B | Leukodystrophy | OMIM:601539 | |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome | Leukodystrophy | ORPHA:79124 | |
Metachromatic Leukodystrophy, Adult Form | Leukodystrophy | ORPHA:309271 | |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 | Leukodystrophy | OMIM:612199 | |
Isolated Complex I Deficiency | Leukodystrophy | ORPHA:2609 | |
Niemann-Pick Disease Type C | Demyelinating peripheral neuropathy, Abnormal CNS myelination, Leukodystrophy | ORPHA:646 | |
Rabson-Mendenhall Syndrome | CNS demyelination | ORPHA:769 | |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities | CNS demyelination | OMIM:620024 | |
De Sanctis-Cacchione Syndrome | Leukodystrophy | OMIM:278800 | |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities | Leukodystrophy | OMIM:619575 | |
Bickerstaff Brainstem Encephalitis | Acute demyelinating polyneuropathy, CNS demyelination | ORPHA:79138 | |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities | Delayed myelination, Peripheral demyelination, Leukodystrophy | OMIM:619475 | |
Cerebrotendinous Xanthomatosis | CNS demyelination, Hypermyelinated retinal nerve fibers | ORPHA:909 | |
Mitochondrial Complex I Deficiency, Nuclear Type 1 | Leukodystrophy | OMIM:252010 | |
Aicardi-Goutières Syndrome | Demyelinating peripheral neuropathy, Leukodystrophy | ORPHA:51 | |
Acute Transverse Myelitis | CNS demyelination | ORPHA:139417 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 | CNS demyelination, Peripheral demyelination | OMIM:220111 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Cyth1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Cyth1tm33724(L1L2_gt1) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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