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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

Protein SuperFamily: transcription factor isl-1
Gene Tree: Lmx1b

Human
homologs
Human Homolog LMX1B, LIM homeobox transcription factor 1, beta
NCBI Gene ID 4010
neXtProt AC  NX_O60663
Human Synonyms  LMX1.2, NPS1
Human Chr (Location)  9q33.3; chr9:126614443-126701032 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human LMX1B
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Chemically induced (ENU)(1) Gene trapped(4) Targeted(11)
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 Using Mouse Lmx1b (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(6)
Interactions
Lmx1b interacts with 294 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: (171 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)
External Resources: Allen Institute   Expression Atlas
Molecular
reagents
All nucleic(26) Genomic(1) cDNA(15) Primer pair(2) Other(8)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000012589 (Evidence)
Ensembl Gene ModelENSMUSG00000038765 (Evidence)
Entrez Gene16917 (Evidence)
UniGene39825
DoTSDT.91328647
NIA Mouse Gene IndexU022521
Consensus CDS ProjectCCDS15944.1
International Mouse Knockout Project StatusLmx1b
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(31) RefSeq(8) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(214 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR001356 Homeodomain
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:215517 Cross SH, et al., A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LBD1-mediated dimerisation. PLoS Genet. 2014 May;10(5):e1004359
All references(224)
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
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory