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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
  • Genetic Map
    Chromosome 5, 14.81 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    LMBR1, limb development membrane protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LMBR1, limb development membrane protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS
  • Links
    NCBI Gene ID: 64327
    neXtProt AC: NX_Q8WVP7
    UniProt: Q8WVP7

  • Chr Location
    7q36.3; chr7:156673354-156893208 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 49706
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: LMBR1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Lmbr1 mouse models; 3 with human LMBR1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
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
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
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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
less
Molecular
Reagents
less
  • All nucleic 11
    Genomic 1
    cDNA 8
    Primer pair 2

    Microarray probesets 9
Other
Accession IDs
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MGI:1924158, MGI:3034300
References
more
  • Summaries
    All 55
    Developmental Gene Expression 7
    Diseases 2
    Gene Ontology 3
    Phenotypes 28
  • Earliest
    J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
  • Latest
    J:237498 Symmons O, et al., The Shh Topological Domain Facilitates the Action of Remote Enhancers by Reducing the Effects of Genomic Distances. Dev Cell. 2016 Dec 05;39(5):529-543

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
04/18/2017
MGI 6.08
The Jackson Laboratory