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Lmx1b
Gene Detail
Symbol

Name
ID
Lmx1b
LIM homeobox transcription factor 1 beta
MGI:1100513
Synonyms
GENA 191, Icst, LMX1.2
Feature Type
protein coding gene
Genetic Map
Chromosome 2
22.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:33560965-33640511 bp, - strand
From VEGA annotation of GRCm38

  79547 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55648  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: LMX1B
Protein SuperFamily: transcription factor isl-1
Gene Tree: Lmx1b

Human
homologs
LMX1B, LIM homeobox transcription factor 1, beta
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4010
neXtProt AC: NX_O60663

Human Synonyms: LMX1.2, NPS1

Human Chr (Location): 9q33.3; chr9:126614443-126701032 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human LMX1B

Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Chemically induced (ENU)(1) Gene trapped(4) Targeted(12)
Incidental mutations (data from APF )
 
Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects.
 
Human Diseases Modeled in Mice Using Lmx1b (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(6)
Interactions
Lmx1b interacts with 293 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process camera-type eye development, cell proliferation, ...
Component nucleus
Function DNA binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (178 records)
Data Summary: Results (328)    Tissues (226)    Images (124)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 27
RNA in situ 301
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA LMX1B ; Xenbase lmx1b, LOC100497942 ; ZFIN lmx1ba, lmx1bb    NEW 
Molecular
reagents
All nucleic(26) Genomic(1) cDNA(15) Primer pair(2) Other(8)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000012589 (Evidence)
Ensembl Gene Model ENSMUSG00000038765 (Evidence)
Entrez Gene 16917 (Evidence)
UniGene 39825
DoTS DT.91328647
NIA Mouse Gene Index U022521
Consensus CDS Project CCDS15944.1
International Mouse Phenotyping Consortium Status Lmx1b
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012589 VEGA Gene Model | MGI Sequence Detail 79547 C57BL/6J ±  kb
transcript OTTMUST00000029994 VEGA | MGI Sequence Detail 4790 Not Applicable 
polypeptide OTTMUSP00000013489 VEGA | MGI Sequence Detail 372 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(6) UniProt(2)
Polymorphisms
RFLP(1) : SNPs within 2kb(214 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR001356 Homeobox domain
InterPro IPR009057 Homeodomain-like
InterPro IPR001781 Zinc finger, LIM-type
Protein Ontology PR:000009871 LIM homeobox transcription factor 1-beta
References
(Earliest) J:43464 Matise MP, et al., Expression patterns of developmental control genes in normal and Engrailed-1 mutant mouse spinal cord reveal early diversity in developing interneurons. J Neurosci. 1997 Oct 15;17(20):7805-16
(Latest) J:222854 Laguna A, et al., Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease. Nat Neurosci. 2015 Jun;18(6):826-35
All references(231)
Disease annotation references (3)
Other
accession IDs
MGI:1890528

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory