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Lmbr1 Gene Detail
Summary
  • Symbol
    Lmbr1
  • Name
    limb region 1
  • Synonyms
    1110048D14Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1861746
    NCBI Gene: 56873
  • Gene Overview
    MyGene.info: LMBR1
Location & Maps
more
  • Sequence Map
    Chr5:29229802-29378384 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      148583 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    LMBR1, limb development membrane protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LMBR1, limb development membrane protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS
  • Links
    NCBI Gene ID: 64327
    neXtProt AC: NX_Q8WVP7

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

  • HomoloGene
    Vertebrate Homology Class 49706
    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
Human Diseases
more
  • Diseases
    1 with Lmbr1 mouse models; 5 with human LMBR1 associations

Human Disease Mouse Models
       Acheiropody; ACHP   OMIM: 200500 View 1 model
       Laurin-Sandrow Syndrome; LSS   OMIM: 135750
Polydactyly, Preaxial II; PPD2   OMIM: 174500
Syndactyly, Type IV; SDTY4   OMIM: 186200
Tibia, Hypoplasia or Aplasia of, with Polydactyly; THYP   OMIM: 188740
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotypes from multigenic genotypes
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    20
  • Chemically induced (other)
    2
  • Gene trapped
    9
  • Radiation induced
    5
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    8 involving Lmbr1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054257 VEGA Gene Model | MGI Sequence Detail 148583 C57BL/6J ±  kb
transcript OTTMUST00000134659 VEGA | MGI Sequence Detail 4926 Not Applicable  
polypeptide OTTMUSP00000071386 VEGA | MGI Sequence Detail 490 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    565 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000009854 limb region 1 protein
  • InterPro Domains
    IPR008075 Lipocalin-1 receptor
    IPR006876 LMBR1-like membrane protein
Molecular
Reagents
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  • All nucleic 10
    Genomic 1
    cDNA 8
    Primer pair 1

    Microarray probesets 9
Other
Accession IDs
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MGI:1924158, MGI:3034300
References
more
  • Summaries
    All 33
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 3
    Phenotypes 28
  • 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

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
04/26/2016
MGI 6.03
The Jackson Laboratory