| Primary Identifier | MGI:5906301 | Allele Type | Transgenic |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Mdga2 |
| Strain of Origin | C57BL/6N | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | The transgenic construct contains an untagged human profilin 1 (PFN1) cDNA sequence (420 bp) encoding the G118V mutant protein under the direction of mouse prion protein promoter. The G118V mutation is associated familial amyotrophic lateral sclerosis (fALS). Expression is detected in brain, spinal cord, and to a lesser extent in skeletal muscle. The transgene is not expressed in the liver. Founder line 838 was identified with total PFN1 protein levels in spinal cord at ~5-fold greater levels compared to endogenous mouse PFN1 protein levels in non-transgenic mice. The transgene inserted on chromosome 12 causing a 151 kb deletion in the Mdga2 (exons 2-3) gene, it is not known if insertion generated a null allele in Mdga2. |
