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Protein Coding Gene : Lama2 laminin, alpha 2

Primary Identifier  MGI:99912 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  16773
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Predicted to be an extracellular matrix structural constituent. Acts upstream of or within axon guidance and positive regulation of cholinergic synaptic transmission. Located in basement membrane and sarcolemma. Is active in neuromuscular junction and synaptic cleft. Is expressed in several structures, including alimentary system; extracellular matrix; metanephros; musculature; and nervous system. Used to study congenital merosin-deficient muscular dystrophy 1A. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy; congenital merosin-deficient muscular dystrophy 1A; muscular dystrophy; and myopia. Orthologous to human LAMA2 (laminin subunit alpha 2).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • mer,
  • laminin, alpha 2,
  • Lama2,
  • nmf417,
  • merosin,
  • dystrophia muscularis,
  • MGD-MRK-16710,
  • MGD-MRK-9246,
  • dy

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For