Mlc1 MGI Mouse Gene Detail - MGI:2157910 - megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)

Mlc1 Gene Detail

Symbol

Mlc1
Name

megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
Synonyms

Kiaa0027-hp, mKIAA0027, WKL1

Feature Type

protein coding gene
IDs

MGI:2157910
NCBI Gene: 170790
Gene Overview

MyGene.info: MLC1

Sequence Map

Chr15:88955884-88979007 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

23124 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 44.46 cM
Mapping Data

1 experiment

Human Ortholog

MLC1, megalencephalic leukoencephalopathy with subcortical cysts 1

Vertebrate Orthologs

10

Human Ortholog

MLC1, megalencephalic leukoencephalopathy with subcortical cysts 1
Orthology source: HomoloGene, HGNC
Synonyms

LVM, MLC, VL
Links

HGNC:17082

NCBI Gene ID: 23209

neXtProt AC: NX_Q15049

UniProt: Q15049
Chr Location

22q13.33; chr22:50059391-50085929 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 15775
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: MLC1
Gene Tree

Mlc1

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References

1 with disease annotations

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Phenotype Summary

16 phenotypes from 4 alleles in 4 genetic backgrounds
30 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (other)

1
Radiation induced

2
Targeted

7
Genomic Mutations

3 involving Mlc1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

18 strains or lines available

Mice homozygous for a null allele exhibit myelin vacuolization that progresses with age, and show alterations in glial cell and oligodendrocyte physiology.

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All GO Annotations

36
GO References

6

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

110
Tissues

23
cDNA Data

38
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN mlc1

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Mlc1 interacts with 176 markers (Mir15a, Mir22, Mir23a, ...) View All

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All Sequences

39
RefSeq

8
UniProt

4
CCDS

CCDS37173.1
UniGene

32780

			Length	Strain/Species	Flank
genomic	OTTMUSG00000020982	VEGA Gene Model \| MGI Sequence Detail	23124	C57BL/6J	± kb
transcript	OTTMUST00000049618	VEGA \| MGI Sequence Detail	2801	Not Applicable
polypeptide	OTTMUSP00000023021	VEGA \| MGI Sequence Detail	388	Not Applicable

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SNPs within 2kb

123 from dbSNP Build 142

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UniProt

4 Sequences
Protein Ontology

PR:000010437 membrane protein MLC1

(term hierarchy)
InterPro Domains

IPR033280 Membrane protein MLC1

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All nucleic 39

cDNA 38

Primer pair 1

Microarray probesets 4

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MGI:2146178, MGI:2146258

Summaries

All 61

Developmental Gene Expression 5

Diseases 1

Gene Ontology 6

Phenotypes 30
Earliest

J:13437 Bangham JW, Hairy ears, Eh. Mouse News Lett. 1965;33:68
Latest

J:237219 Sugio S, et al., Astrocyte-mediated infantile-onset leukoencephalopathy mouse model. Glia. 2017 Jan;65(1):150-168

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 09/12/2017 MGI 6.10