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Lama2 Gene Detail
Summary
  • Symbol
    Lama2
  • Name
    laminin, alpha 2
  • Synonyms
    mer, merosin, nmf417
  • Feature Type
    protein coding gene
  • IDs
    MGI:99912
    NCBI Gene: 16773
Location & Maps
more
  • Sequence Map
    Chr10:26980036-27619758 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      639723 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 14.23 cM, cytoband A4-B1
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    LAMA2, laminin subunit alpha 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LAMA2, laminin subunit alpha 2
    Orthology source: HomoloGene
  • Synonyms
    LAMM
  • Links
    NCBI Gene ID: 3908
    neXtProt AC: NX_P24043

  • Chr Location
    6q22-q23; chr6:128883141-129516569 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 37306
    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: LAMA2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Lama2 mouse models; 1 with human LAMA2 associations

Human Disease Mouse Models
       Muscular Dystrophy, Congenital Merosin-Deficient, 1A; MDC1A   OMIM: 607855 View 9 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    79 phenotypes from 7 alleles in 18 genetic backgrounds
    27 phenotypes from multigenic genotypes
    5 images
    138 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.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Spontaneous
    4
  • Targeted
    2
  • Genomic Mutations
    1 involving Lama2
  • Incidental Mutations
Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000045038 VEGA Gene Model | MGI Sequence Detail 639723 C57BL/6J ±  kb
transcript OTTMUST00000118352 VEGA | MGI Sequence Detail 9614 Not Applicable  
polypeptide OTTMUSP00000066069 VEGA | MGI Sequence Detail 3118 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    4583 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 69
    Genomic 4
    cDNA 62
    Primer pair 1
    Other 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-16710, MGD-MRK-9246
References
more
  • Summaries
    All 263
    Developmental Gene Expression 64
    Diseases 13
    Gene Ontology 13
    Phenotypes 138
  • Earliest
    J:13125 Michelson AM, et al., Dystrophia muscularis: a hereditary primary myopathy in the house mouse. Proc Natl Acad Sci U S A. 1955 Dec 15;41(12):1079-1084
  • Latest
    J:220875 Pedrotti S, et al., The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function. Hum Mol Genet. 2015 Apr 15;24(8):2360-74

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory