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Lmbr1
Gene Detail
Symbol

Name
ID
Lmbr1
limb region 1
MGI:1861746
Synonyms
1110048D14Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 5
14.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr5:29229814-29378390 bp, - strand
From Ensembl annotation of GRCm38

  148577 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:49706  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: LMBR1
Gene Tree: Lmbr1

Human
homologs
LMBR1, limb development membrane protein 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 64327
neXtProt AC: NX_Q8WVP7

Human Synonyms: ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS

Human Chr (Location): 7q36; chr7:156668946-156893208 (-)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human LMBR1

Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Gene trapped(9) Radiation induced(5) Targeted(3)
Genomic Mutations involving Lmbr1 (5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a null allele show minor coalitions of distal wrist bones and a low incidence of limb defects, including oligodactyly, brachyphalangia, and soft tissue or bony syndactyly. Homozygotes for another null allele exhibit normal morphology, clinical chemistry, hematology and behavior.
 
Human Diseases Modeled in Mice Using Lmbr1 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(4)
Interactions
Lmbr1 interacts with 357 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process embryonic digit morphogenesis, embryonic hindlimb morphogenesis
Component integral component of membrane, membrane
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (75)    Tissues (46)    Tissue x Stage Matrix (view)
Assay TypeResults
In situ reporter (knock in) 37
RT-PCR 38
cDNA source data(8)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA LMBR1 ; Xenbase lmbr1    NEW 
Molecular
reagents
All nucleic(10) Genomic(1) cDNA(8) Primer pair(1)
Microarray probesets(9)
Other database
links
Ensembl Gene Model ENSMUSG00000010721 (Evidence)
Entrez Gene 56873 (Evidence)
DFCI TC1593430, TC1613552, TC1586550, TC1653839, TC1629507, TC1617713
DoTS DT.91330388, DT.91339819, DT.94243454, DT.87039570, DT.40167347
NIA Mouse Gene Index U026035
Consensus CDS Project CCDS19148.1
International Mouse Phenotyping Consortium Status Lmbr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000010721 Ensembl Gene Model | MGI Sequence Detail 148577 C57BL/6J ±  kb
transcript ENSMUST00000055195 Ensembl | MGI Sequence Detail 4920 Not Applicable 
polypeptide ENSMUSP00000058405 Ensembl | MGI Sequence Detail 490 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(22) UniProt(3)
Polymorphisms
SNPs within 2kb(566 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008075 Lipocalin-1 receptor
InterPro IPR006876 LMBR1-like membrane protein
Protein Ontology PR:000009854 limb region 1 protein
References
(Earliest) J:63394 Clark RM, et al., A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. Genomics. 2000 Jul 1;67(1):19-27
(Latest) J:217498 Anderson E, et al., Mapping the Shh long-range regulatory domain. Development. 2014 Oct;141(20):3934-43
All references(35)
Disease annotation references (1)
Other
accession IDs
MGI:1924158, MGI:3034300

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
07/28/2015
MGI 5.22
The Jackson Laboratory