Lama2 - SNV Details

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 Human Rare Diseases 
Congenital muscular dystrophy type 1A

 Gene Information 
Gene Name Lama2
Gene Description laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
basement membrane; membrane; regulation of cell migration; sarcolemma; cell adhesion; basal lamina; myelination in peripheral nervous system; regulation of embryonic development; protein binding; extracellular vesicular exosome; vesicle-mediated transport; dendritic spine; extracellular matrix organization; axon guidance; extracellular region; receptor binding; positive regulation of synaptic transmission
cholinergic; laminin-1 complex; regulation of cell adhesion
Homolog in other species LAMA2
Omim http://omim.org/entry/156225
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000019899
Chromosome 10
Coordinate 27,467,197     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.68
A:V0.32
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL00467
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved