Version: 8.0.0Date: Tue Jan 28 2025
Gene
Mlc1
- Species
- Mus musculus
- Symbol
- Mlc1
- Name
- megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
- Synonyms
- AW048630
- BB074274
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including caveolin-mediated endocytosis; cellular response to cholesterol; and regulation of response to osmotic stress. Located in several cellular components, including apical plasma membrane; astrocyte end-foot; and cell-cell junction. Is expressed in several structures, including brain; eye; gut; male reproductive gland or organ; and spinal cord. Used to study megalencephalic leukoencephalopathy with subcortical cysts 1. Human ortholog(s) of this gene implicated in megalencephalic leukoencephalopathy with subcortical cysts 1. Orthologous to human MLC1 (modulator of VRAC current 1).
- MGI Description
- PHENOTYPE: Mice homozygous for a null allele exhibit myelin vacuolization that progresses with age, and show alterations in glial cell and oligodendrocyte physiology. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR17597
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr15:88840087...88863192 - (23.11 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.