|
Symbol Name ID |
Macf1
microtubule-actin crosslinking factor 1 MGI:108559 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Dysphagia |
Optic nerve hypoplasia |
Spasticity |
Hypoplasia of the pons |
Hypoplasia of the brainstem |
Enlarged tectum |
Lissencephaly |
Pachygyria |
Thin corpus callosum |
Hypoplasia of the corpus callosum |
Abnormality of the anterior commissure |
Hypoplastic anterior commissure |
Abnormal hippocampus morphology |
Dysgenesis of the hippocampus |
Cerebellar vermis hypoplasia |
Aplasia/Hypoplasia of the cerebellum |
Cerebellar hemisphere hypoplasia |
Involuntary movements |
Absent speech |
Motor stereotypy |
Intellectual disability, severe |
Neurodevelopmental delay |
Global developmental delay |
Delayed ability to sit |
Delayed ability to walk |
Seizure |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Infantile spasms |
Myoclonic seizure |
| Disease(s) Associated with MACF1 | |||||||||||||||||||||||||||||||
| lissencephaly 9 with complex brainstem malformation |
| Mouse Phenotypes | nervous system phenotype |
abnormal photoreceptor connecting cilium morphology |
abnormal neuronal migration |
abnormal brain morphology |
enlarged brain ventricles |
small lateral ventricles |
abnormal lateral ventricle morphology |
abnormal hippocampal commissure morphology |
abnormal anterior commissure morphology |
abnormal dentate gyrus morphology |
abnormal hippocampus pyramidal cell layer |
ectopic hippocampus pyramidal cells |
abnormal cerebral hemisphere morphology |
abnormal cerebral cortex morphology |
abnormal stratification in cerebral cortex |
thin cerebral cortex |
abnormal retina bipolar cell morphology |
absent photoreceptor inner segment |
absent photoreceptor outer segment |
retina photoreceptor degeneration |
|
| Availability | Mouse Genotype | ||||||||||||||||||||
| Macf1tm1Efu/Macf1tm1Efu Tg(Six3-cre)69Frty/0 (conditional) |
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| Macf1tm1Efu/Macf1tm1Efu Tg(rx3-icre)1Mjam/0 (conditional) |
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| Macf1tm1Efu/Macf1tm1Efu (conditional) | |||||||||||||||||||||
| Macf1tm2.1Liem/Macf1tm2.2Liem Tg(Nes-cre)1Kln/0 (conditional) |
* | ||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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