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 | Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, CNS hy... | OMIM:214400 | |
Null Syndrome | Demyelinating peripheral neuropathy, CNS hypomyelination, Peripheral demyelination | ORPHA:280234 | |
Leukodystrophy, Hypomyelinating, 11 | CNS hypomyelination, Leukodystrophy | OMIM:616494 | |
Adult-onset autosomal dominant leukodystrophy (ADLD) | Leukodystrophy, Peripheral demyelination | DECIPHER:59 | |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 | CNS hypomyelination | OMIM:620425 | |
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 | CNS hypomyelination, Leukodystrophy | OMIM:617560 | |
Multiple Mitochondrial Dysfunctions Syndrome 4 | Leukodystrophy | OMIM:616370 | |
Methionine Adenosyltransferase I/Iii Deficiency | CNS demyelination, Peripheral demyelination | OMIM:250850 | |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia | Leukodystrophy | OMIM:616763 | |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome | CNS hypomyelination, Cerebral hypomyelination | ORPHA:369939 | |
Developmental And Epileptic Encephalopathy 79 | CNS hypomyelination | OMIM:618559 | |
Developmental And Epileptic Encephalopathy 78 | CNS hypomyelination | OMIM:618557 | |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy | CNS hypomyelination, Leukodystrophy | ORPHA:527497 | |
Tremor, Hereditary Essential, 6 | Leukodystrophy | OMIM:618866 | |
Deafness, Dystonia, And Cerebral Hypomyelination | Cerebral hypomyelination | OMIM:300475 | |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties | CNS hypomyelination, Delayed CNS myelination | 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, Hypomyelinating, 5 | CNS hypomyelination, Onion bulb formation, Leukodystrophy | OMIM:610532 | |
Leukodystrophy, Childhood-Onset, Remitting | Leukodystrophy | OMIM:619864 | |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities | CNS hypomyelination, Delayed CNS myelination | OMIM:616577 | |
Leukoencephalopathy With Vanishing White Matter 1 | CNS demyelination, Cerebral hypomyelination | OMIM:603896 | |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity | CNS hypomyelination | OMIM:615281 | |
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 | CNS hypomyelination, Leukodystrophy | OMIM:617951 | |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism | CNS hypomyelination, Leukodystrophy | OMIM:607694 | |
Leukoencephalopathy, Brain Calcifications, And Cysts | Leukodystrophy | OMIM:614561 | |
Huppke-Brendel Syndrome | CNS hypomyelination | OMIM:614482 | |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures | CNS hypomyelination | OMIM:620023 | |
Hereditary Methemoglobinemia | Delayed myelination, Cerebral hypomyelination | ORPHA:621 | |
Peroxisome Biogenesis Disorder 11A (Zellweger) | CNS hypomyelination | OMIM:614883 | |
Leukodystrophy, Hypomyelinating, 6 | Leukodystrophy, Cerebral hypomyelination | OMIM:612438 | |
Multiple Mitochondrial Dysfunctions Syndrome 5 | Delayed myelination, Leukodystrophy | OMIM:617613 | |
Spastic Paraplegia 44, Autosomal Recessive | CNS hypomyelination | OMIM:613206 | |
Leukodystrophy, Hypomyelinating, 2 | Demyelinating motor neuropathy, Leukodystrophy, Cerebral hypomyelination | OMIM:608804 | |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy | Leukodystrophy | OMIM:619196 | |
Developmental And Epileptic Encephalopathy 93 | CNS hypomyelination | OMIM:618012 | |
Alg2-Cdg | Cerebral hypomyelination | ORPHA:79326 | |
Ddost-Cdg | CNS hypomyelination | ORPHA:300536 | |
Giant Axonal Neuropathy | CNS hypomyelination | ORPHA:643 | |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism | CNS hypomyelination, Leukodystrophy, Cerebral hypomyelination | OMIM:614381 | |
Neurodevelopmental Disorder With Language Delay And Seizures | CNS hypomyelination | OMIM:619908 | |
Orofaciodigital Syndrome Xvii | CNS hypomyelination | OMIM:617926 | |
Leukodystrophy, Hypomyelinating, 10 | CNS hypomyelination, Leukodystrophy | OMIM:616420 | |
Folinic Acid-Responsive Seizures | Delayed myelination, Cerebral hypomyelination | ORPHA:79097 | |
Pelizaeus-Merzbacher Disease | CNS hypomyelination, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination | OMIM:312080 | |
Spasticity, Childhood-Onset, With Hyperglycinemia | Leukodystrophy | OMIM:616859 | |
Tremor-Ataxia-Central Hypomyelination Syndrome | CNS hypomyelination, Leukodystrophy | ORPHA:447896 | |
Lissencephaly 8 | Cerebral hypomyelination | OMIM:617255 | |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia | CNS hypomyelination | OMIM:619286 | |
Developmental And Epileptic Encephalopathy 75 | CNS hypomyelination | OMIM:618437 | |
Developmental And Epileptic Encephalopathy 4 | Cerebral hypomyelination, Delayed CNS myelination | OMIM:612164 | |
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 | CNS hypomyelination, Delayed CNS myelination | OMIM:619260 | |
4H Leukodystrophy | Cerebral hypomyelination | ORPHA:289494 | |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects | CNS hypomyelination, Leukodystrophy | 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 | |
Adenylosuccinase Deficiency | CNS hypomyelination, Cerebral hypomyelination | OMIM:103050 | |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies | CNS hypomyelination | OMIM:618622 | |
Immunodeficiency 26 With Or Without Neurologic Abnormalities | CNS hypomyelination | OMIM:615966 | |
Developmental And Epileptic Encephalopathy 29 | CNS hypomyelination | OMIM:616339 | |
Combined Oxidative Phosphorylation Deficiency 24 | CNS hypomyelination | OMIM:616239 | |
Pelizaeus-Merzbacher Disease In Female Carriers | CNS hypomyelination | ORPHA:280229 | |
Combined Oxidative Phosphorylation Deficiency 11 | Delayed myelination, CNS hypomyelination | OMIM:614922 | |
Leukodystrophy, Hypomyelinating, 12 | Delayed myelination, Cerebral hypomyelination | OMIM:616683 | |
Developmental And Epileptic Encephalopathy 71 | CNS demyelination | OMIM:618328 | |
Combined Oxidative Phosphorylation Deficiency 53 | CNS hypomyelination | OMIM:619423 | |
Juvenile Amyotrophic Lateral Sclerosis | CNS hypomyelination, Amyotrophic lateral sclerosis | 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 | CNS hypomyelination, Delayed CNS myelination | OMIM:619580 | |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy | Cerebral hypomyelination | OMIM:612949 | |
Pelizaeus-Merzbacher Disease, Connatal Form | Abnormal myelination, Cerebral hypomyelination | ORPHA:280210 | |
Leukoencephalopathy, Cystic, Without Megalencephaly | Abnormal CNS myelination | OMIM:612951 | |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome | Abnormal CNS myelination | ORPHA:521390 | |
Dermatoleukodystrophy | Leukodystrophy | OMIM:221790 | |
Gaba-Transaminase Deficiency | Leukodystrophy | OMIM:613163 | |
Peroxisomal Acyl-Coa Oxidase Deficiency | CNS demyelination, Leukodystrophy | OMIM:264470 | |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum | CNS hypomyelination | OMIM:617193 | |
Marbach-Rustad Progeroid Syndrome | CNS hypomyelination | OMIM:619322 | |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile | Leukodystrophy, Delayed CNS myelination | OMIM:618688 | |
Pelizaeus-Merzbacher Disease, Classic Form | Cerebral hypomyelination | ORPHA:280219 | |
Sandhoff Disease | CNS hypomyelination | OMIM:268800 | |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies | Abnormal CNS myelination | OMIM:611555 | |
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 | CNS hypomyelination, Leukodystrophy | OMIM:619708 | |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities | CNS hypomyelination | OMIM:618922 | |
Mitochondrial Complex I Deficiency, Nuclear Type 21 | Leukodystrophy | OMIM:618242 | |
Mitochondrial Complex I Deficiency, Nuclear Type 15 | CNS demyelination | OMIM:618237 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | CNS hypomyelination, Cerebral hypomyelination, Delayed CNS myelination | OMIM:618367 | |
Metachromatic Leukodystrophy Due To Saposin B Deficiency | CNS demyelination, Peripheral demyelination | OMIM:249900 | |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome | Abnormal CNS myelination | ORPHA:477673 | |
Chromosome 8Q21.11 Deletion Syndrome | CNS hypomyelination | OMIM:614230 | |
Multiple Sclerosis, Susceptibility To | CNS demyelination | OMIM:126200 | |
Leukodystrophy, Hypomyelinating, 17 | Leukodystrophy | OMIM:618006 | |
Abetalipoproteinemia | CNS demyelination, Peripheral demyelination | OMIM:200100 | |
Frontal Encephalocele | Leukodystrophy | ORPHA:1931 | |
Hyperphosphatasia-Intellectual Disability Syndrome | Cerebral hypomyelination | ORPHA:247262 | |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form | Delayed myelination, Cerebral hypomyelination | ORPHA:79351 | |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia | CNS hypomyelination | OMIM:619306 | |
Neurodegeneration With Brain Iron Accumulation 7 | Leukodystrophy | OMIM:617916 | |
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 | |
Fucosidosis | CNS hypomyelination | OMIM:230000 | |
Leukodystrophy, Hypomyelinating, 16 | Leukodystrophy, Delayed CNS myelination | OMIM:617964 | |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 | CNS hypomyelination | OMIM:615356 | |
Aicardi-Goutieres Syndrome 6 | Leukodystrophy | OMIM:615010 | |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 | CNS demyelination | OMIM:618193 | |
Pyruvate Carboxylase Deficiency | Delayed myelination, CNS hypomyelination | ORPHA:3008 | |
Allan-Herndon-Dudley Syndrome | Leukodystrophy, Delayed CNS myelination | OMIM:300523 | |
Combined Oxidative Phosphorylation Deficiency 13 | Leukodystrophy | OMIM:614932 | |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome | Cerebral hypomyelination | ORPHA:496641 | |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia | Leukodystrophy, Delayed CNS myelination | OMIM:620269 | |
Leukodystrophy, Hypomyelinating, 3 | Sudanophilic leukodystrophy, Leukodystrophy | OMIM:260600 | |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 | CNS demyelination | OMIM:221820 | |
Leukodystrophy, Hypomyelinating, 24 | Leukodystrophy | OMIM:619851 | |
Mitochondrial Complex I Deficiency, Nuclear Type 4 | Leukodystrophy | OMIM:618225 | |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus | CNS demyelination, Delayed CNS myelination | OMIM:619653 | |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 | Leukodystrophy | OMIM:619224 | |
Schilder Disease | CNS demyelination | ORPHA:59298 | |
Hengel-Maroofian-Schols Syndrome | Abnormal CNS myelination | OMIM:619641 | |
Aicardi-Goutieres Syndrome 5 | Leukodystrophy | OMIM:612952 | |
Waardenburg Syndrome, Type 2E | Cerebral hypomyelination | OMIM:611584 | |
2,4-Dienoyl-Coa Reductase Deficiency | Leukodystrophy, Delayed CNS myelination | OMIM:616034 | |
Waardenburg Syndrome, Type 4A | Leukodystrophy | OMIM:277580 | |
Leukodystrophy, Hypomyelinating, 4 | Leukodystrophy | OMIM:612233 | |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion | CNS hypomyelination | ORPHA:268261 | |
Aicardi-Goutieres Syndrome 4 | Leukodystrophy | OMIM:610333 | |
Pyruvate Carboxylase Deficiency | Leukodystrophy | OMIM:266150 | |
Krabbe Disease | CNS demyelination, Peripheral demyelination | OMIM:245200 | |
Dpagt1-Cdg | CNS hypomyelination | ORPHA:86309 | |
Sjogren-Larsson Syndrome | CNS demyelination | OMIM:270200 | |
Multiple Mitochondrial Dysfunctions Syndrome 3 | Leukodystrophy | OMIM:615330 | |
Mitochondrial Complex I Deficiency, Nuclear Type 5 | Leukodystrophy | OMIM:618226 | |
Childhood-Onset Spasticity With Hyperglycinemia | Leukodystrophy | ORPHA:401866 | |
Trigeminal Neuralgia | CNS demyelination, Peripheral demyelination | ORPHA:221091 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Abnormal CNS myelination | OMIM:619053 | |
Cerebrooculofacioskeletal Syndrome 1 | Delayed myelination, CNS demyelination | OMIM:214150 | |
Peroxisome Biogenesis Disorder 8B | Leukodystrophy, Peripheral demyelination | OMIM:614877 | |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | Symmetric peripheral demyelination, Leukodystrophy | OMIM:169500 | |
Leukodystrophy, Hypomyelinating, 13 | Leukodystrophy, Delayed CNS myelination | OMIM:616881 | |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome | Cerebral hypomyelination | ORPHA:447997 | |
Leigh Syndrome | CNS demyelination | OMIM:256000 | |
Wiedemann-Rautenstrauch Syndrome | CNS hypomyelination, Leukodystrophy | ORPHA:3455 | |
Leukodystrophy, Hypomyelinating, 9 | Leukodystrophy | OMIM:616140 | |
Combined Oxidative Phosphorylation Deficiency 4 | Leukodystrophy | OMIM:610678 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 | Leukodystrophy | OMIM:619051 | |
Late-Infantile/Juvenile Krabbe Disease | Abnormal CNS myelination | ORPHA:206443 | |
Leukodystrophy, Progressive, Early Childhood-Onset | Leukodystrophy | OMIM:617762 | |
Orofaciodigital Syndrome Xiv | CNS hypomyelination | OMIM:615948 | |
Canavan Disease | CNS demyelination | OMIM:271900 | |
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 | |
Adult Krabbe Disease | CNS demyelination, Peripheral demyelination | ORPHA:206448 | |
Rere-Related Neurodevelopmental Syndrome | CNS demyelination | ORPHA:494344 | |
Hyperglycinemia, Lactic Acidosis, And Seizures | Leukodystrophy | OMIM:614462 | |
Biliary, Renal, Neurologic, And Skeletal Syndrome | CNS hypomyelination | OMIM:619534 | |
Isolated Sedoheptulokinase Deficiency | Abnormal CNS myelination | ORPHA:440713 | |
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 | |
Multiple Sulfatase Deficiency | CNS demyelination, Peripheral demyelination | OMIM:272200 | |
Peroxisome Biogenesis Disorder 12A (Zellweger) | CNS demyelination | OMIM:614886 | |
Peroxisome Biogenesis Disorder 6B | Leukodystrophy | OMIM:614871 | |
Combined Oxidative Phosphorylation Deficiency 59 | CNS demyelination | OMIM:620646 | |
Immunodeficiency 23 | Abnormal CNS myelination | OMIM:615816 | |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) | Leukodystrophy, Delayed CNS myelination | OMIM:615471 | |
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 | |
X-Linked Cerebral Adrenoleukodystrophy | CNS demyelination, Diffuse demyelination of the cerebral white matter | ORPHA:139396 | |
Secondary Syringomyelia | CNS demyelination | ORPHA:99857 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Leukodystrophy | OMIM:616538 | |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity | Abnormal CNS myelination, Abnormal myelination | OMIM:620371 | |
Metachromatic Leukodystrophy, Late Infantile Form | Leukodystrophy | ORPHA:309256 | |
Acute Disseminated Encephalomyelitis | CNS demyelination | ORPHA:83597 | |
Metachromatic Leukodystrophy, Juvenile Form | Leukodystrophy | ORPHA:309263 | |
Combined Oxidative Phosphorylation Deficiency 58 | CNS demyelination | OMIM:620451 | |
Hemophagocytic Lymphohistiocytosis, Familial, 2 | CNS demyelination | OMIM:603553 | |
Glycogen Storage Disease Ii | Abnormal CNS myelination | OMIM:232300 | |
Leigh Syndrome | Leukodystrophy | ORPHA:506 | |
Peroxisome Biogenesis Disorder 1B | Leukodystrophy | OMIM:601539 | |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome | Leukodystrophy | ORPHA:79124 | |
Metachromatic Leukodystrophy, Adult Form | Leukodystrophy | ORPHA:309271 | |
Isolated Complex I Deficiency | Leukodystrophy | ORPHA:2609 | |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 | Leukodystrophy | OMIM:612199 | |
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 | |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities | Delayed myelination, Leukodystrophy, Peripheral demyelination | OMIM:619475 | |
Bickerstaff Brainstem Encephalitis | CNS demyelination, Acute demyelinating polyneuropathy | ORPHA:79138 | |
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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