Gene
lama2
- ID
- ZDB-GENE-060119-1
- Name
- laminin, alpha 2
- Symbol
- lama2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. Acts upstream of or within muscle attachment and myelination in peripheral nervous system. Predicted to be located in extracellular region. Predicted to be active in basement membrane. Is expressed in several structures, including adaxial cell; central nervous system; eye; musculature system; and otic vesicle. Used to study congenital merosin-deficient muscular dystrophy 1A and muscular dystrophy. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 38 figures from 16 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| cl501 | Allele with one point mutation | Donor Splice Site of Intron 33 | Unknown | ENU | |
| la011159Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| re16 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| teg15a | Allele with one point mutation | Unknown | Premature Stop | not specified | |
| tk209 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-lama2 | (2) | |
| MO1-lama2 | N/A | (5) |
| MO3-lama2 | N/A | Hall et al., 2007 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 23 | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 23 | 618138 |
| congenital merosin-deficient muscular dystrophy 1A | Alliance | Muscular dystrophy, congenital, merosin deficient or partially deficient | 607855 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Concanavalin A-like lectin/glucanase domain superfamily | EGF-like domain | Laminin alpha, domain I | Laminin domain II | Laminin G domain | Laminin IV | Laminin/Netrin Extracellular Matrix | Laminin, N-terminal | Laminin-type EGF domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:G8IHU0 | InterPro | 3078 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(actc1b:lama2-mCherry) |
|
| 1 | Hall et al., 2019 | |
| Tg(hsp70l:lama2-mCherry) |
|
| 1 | Hall et al., 2019 |
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No data available