Primary Identifier | MGI:1856027 | Allele Type | Spontaneous |
Gene | Lama2 | Inheritance Mode | Recessive |
Strain of Origin | WK/ReJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | The G-to-A mutation eliminates a splice donor site by changing it from C-GT to C-AT, which causes abnormal splicing and expression of multiple aberrant mRNAs variants. One mRNA is translated into an alpha 2 polypeptide with a deletion in domain VI. |