Arx
Gene Detail

Symbol Name ID

Arx aristaless related homeobox MGI:1097716

Feature Type

protein coding gene

Genetic Map

Chromosome X

41.05 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

ChrX:93286507-93298357 bp, + strand From VEGA annotation of GRCm38   11851 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:68998  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 dog; 1 zebrafish

Gene Tree: Arx

Human homologs

Human Homolog		ARX, aristaless related homeobox
NCBI Gene ID		170302
neXtProt AC		NX_Q96QS3
Human Synonyms		CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
Human Chr (Location)		Xp21.3; chrX:25021811-25034065 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human ARX

Alleles and phenotypes

All alleles(7) : Targeted(7)
 

Males hemizygous for targeted null mutations die perinatally. Male mice hemizygous for various alleles with point mutations or triple repeat expansion exhibit defective GABAergic neuron migration and numbers, seizures, and/or behavioral defects.

 
Human Diseases Modeled Using Mouse Arx (2)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	axon guidance, cell differentiation, ...
Component	nucleus
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (66 records)
Data Summary: Results (459)    Tissues (209)    Images (94)
Theiler Stages: 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	450
Northern blot	1
RT-PCR	8

cDNA source data(31)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(37) Genomic(1) cDNA(31) Primer pair(5)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000017972 (Evidence)
Ensembl Gene Model	ENSMUSG00000035277 (Evidence)
Entrez Gene	11878 (Evidence)
UniGene	275547
DFCI	TC1580899, TC1756562
DoTS	DT.101365945, DT.60103879
NIA Mouse Gene Index	U020009
Consensus CDS Project	CCDS30271.1
International Mouse Knockout Project Status	Arx

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017972	VEGA Gene Model | MGI Sequence Detail	11851	C57BL/6J
transcript	OTTMUST00000043409	VEGA | MGI Sequence Detail	2870	Not Applicable
polypeptide	OTTMUSP00000019500	VEGA | MGI Sequence Detail	564	Not Applicable

All sequences(22) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(1) : SNPs(2 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017970	Homeobox, conserved site
InterPro	IPR001356	Homeodomain
InterPro	IPR009057	Homeodomain-like
InterPro	IPR003654	OAR domain
Protein Ontology	PR:000004334	homeobox protein ARX

References

(Earliest) J:42033 Miura H, et al., Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev. 1997 Jul;65(1-2):99-109
(Latest) J:193620 Visel A, et al., A high-resolution enhancer atlas of the developing telencephalon. Cell. 2013 Feb 14;152(4):895-908
All references(108)