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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 zebrafish

Gene Tree: Lmbr1

Human
homologs
Human Homolog LMBR1, limb development membrane protein 1
NCBI Gene ID 64327
neXtProt AC  NX_Q8WVP7
Human Synonyms  ACHP, C7orf2, DIF14, PPD2, TPT, ZRS
Human Chr (Location)  7q36; chr7:156677840-156893208 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human LMBR1
Alleles
and
phenotypes
All alleles(12) : Targeted(3) Gene trapped(9)
 
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 Using Mouse Lmbr1 (1)    Alleles Annotated to Human Diseases(1)   
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: (5 records)
Data Summary: Results (75)    Tissues (46)   
Theiler Stages: 28
Assay TypeResults
In situ reporter (knock in) 37
RT-PCR 38
cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(10) Genomic(1) cDNA(8) Primer pair(1)
Microarray probesets(9)
Other database
links
Ensembl Gene ModelENSMUSG00000010721 (Evidence)
Entrez Gene56873 (Evidence)
DFCITC1586550, TC1593430, TC1613552, TC1617713, TC1629507, TC1653839
DoTSDT.40167347, DT.87039570, DT.91330388, DT.91339819, DT.94243454
NIA Mouse Gene IndexU026035
Consensus CDS ProjectCCDS19148.1
International Mouse Knockout Project StatusLmbr1
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(56) RefSeq(20) 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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(35)
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
04/08/2014
MGI 5.17
The Jackson Laboratory