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Lama3 Gene Detail
Summary
  • Symbol
    Lama3
  • Name
    laminin, alpha 3
  • Synonyms
    [a]3B, nicein, 150kDa
  • Feature Type
    protein coding gene
  • IDs
    MGI:99909
    NCBI Gene: 16774
Location & Maps
more
  • Sequence Map
    Chr18:12333819-12583013 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      249195 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 6.20 cM, cytoband A
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    LAMA3, laminin subunit alpha 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    LAMA3, laminin subunit alpha 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BM600, E170, LAMNA, LOCS
  • Links
    NCBI Gene ID: 3909
    neXtProt AC: NX_Q16787

  • Chr Location
    18q11.2; chr18:23689443-23955066 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Lama3 mouse models; 3 with human LAMA3 associations

Human Disease Mouse Models
       Epidermolysis Bullosa, Junctional, Non-Herlitz Type   OMIM: 226650 View 1 model
       Epidermolysis Bullosa, Junctional, Herlitz Type   OMIM: 226700
Laryngoonychocutaneous Syndrome; LOCS   OMIM: 245660
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    4 images
    5 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 targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
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 OTTMUSG00000045059 VEGA Gene Model | MGI Sequence Detail 249195 C57BL/6J ±  kb
transcript OTTMUST00000118410 VEGA | MGI Sequence Detail 10548 Not Applicable  
polypeptide OTTMUSP00000066092 VEGA | MGI Sequence Detail 3330 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1903 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 39
    Genomic 6
    cDNA 30
    Other 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-16706
References
more
  • Summaries
    All 71
    Developmental Gene Expression 33
    Diseases 1
    Gene Ontology 8
    Phenotypes 5
  • Earliest
    J:24448 Marinkovich MP, et al., The dermal-epidermal junction of human skin contains a novel laminin variant. J Cell Biol. 1992 Nov;119(3):695-703
  • Latest
    J:202984 Rockich BE, et al., Sox9 plays multiple roles in the lung epithelium during branching morphogenesis. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4456-64

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
09/20/2016
MGI 6.05
The Jackson Laboratory