Lama1 - SNV Details



 Gene Information 
Gene Name Lama1
Old Gene Names for Lama1 Lama , Aa408497
Gene Description laminin, alpha 1 [Source:MGI Symbol;Acc:MGI:99892]
MGI phenotype Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.
Uniprot Name
CCDS Name
Gene GO
retinal blood vessel morphogenesis; basement membrane; extracellular matrix; regulation of cell migration; establishment of epithelial cell apical/basal polarity; cell adhesion; retina development in camera-type eye; basal lamina; proteinaceous extracellular matrix; regulation of embryonic development; laminin complex; laminin-3 complex; cell-cell junction; protein binding; epithelial tube branching involved in lung morphogenesis; neuron projection development; branching involved in salivary gland morphogenesis; cell surface receptor signaling pathway; glycosphingolipid binding; receptor binding; extracellular matrix structural constituent; extracellular space; morphogenesis of an epithelial sheet; laminin-1 complex; tissue development; regulation of cell adhesion
Homolog in other species LAMA1
Omim http://omim.org/entry/150320
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
MEDIAN
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000032796
Chromosome 17
Coordinate 67,795,191     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 31
Allele Frequency
G:R0.48
T:V0.52
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02798
Median Base Quality 39
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved