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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:29434800-29583414 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, Syntenic
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3323 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1861746
 protein coding gene Chr5:29434800-29583414 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029374
 protein coding gene Chr5:27140239-27288758 (-)
A/J MGP_AJ_G0029340
 protein coding gene Chr5:26232728-26386390 (-)
AKR/J MGP_AKRJ_G0029291
 protein coding gene Chr5:27296534-27452693 (-)
BALB/cJ MGP_BALBcJ_G0029351
 protein coding gene Chr5:26777230-26926387 (-)
C3H/HeJ MGP_C3HHeJ_G0029072
 protein coding gene Chr5:27328377-27481989 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029804
 protein coding gene Chr5:28800553-28961283 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027042
 protein coding gene Chr5:23806468-23942761 (-)
CAST/EiJ MGP_CASTEiJ_G0028483
 protein coding gene Chr5:26421128-26578718 (-)
CBA/J MGP_CBAJ_G0029040
 protein coding gene Chr5:29299054-29488630 (-)
DBA/2J MGP_DBA2J_G0029189
 protein coding gene Chr5:26448790-26596130 (-)
FVB/NJ MGP_FVBNJ_G0029147
 protein coding gene Chr5:25862075-26003412 (-)
LP/J MGP_LPJ_G0029274
 protein coding gene Chr5:27596566-27741380 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029176
 protein coding gene Chr5:30308863-30476191 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029838
 protein coding gene Chr5:26897529-27041326 (-)
PWK/PhJ MGP_PWKPhJ_G0028207
 protein coding gene Chr5:25553026-25699671 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028038
 protein coding gene Chr5:26192401-26338175 (-)
WSB/EiJ MGP_WSBEiJ_G0028563
 protein coding gene Chr5:26920123-27068891 (-)



Homology
more
  • Human Ortholog
    LMBR1, limb development membrane protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LMBR1, limb development membrane protein 1
  • Synonyms
    ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, TPTPS, ZRS
  • Links
    NCBI Gene ID: 64327
    neXtProt AC: NX_Q8WVP7
    UniProt: Q8WVP7

  • Chr Location
    7q36.3; chr7:156668946-156893216 (-)  GRCh38
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
    49 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
less
  • All GO Annotations
    6
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
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
    817
  • Tissues
    57
  • cDNA Data
    15
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56873 NCBI Gene Model | MGI Sequence Detail 148615 C57BL/6J ±  kb
    transcript NM_020295 RefSeq | MGI Sequence Detail 4949 C57BL/6  
    polypeptide Q9JIT0 UniProt | EBI | MGI Sequence Detail 490 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 1
      cDNA 15
      Primer pair 2
      Other 1

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:1924158, MGI:2141307, MGI:3034300
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 4
      Phenotypes 49
    • 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:306058 Ushiki A, et al., Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun. 2021 Apr 16;12(1):2282
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory