Primary Identifier | MGI:5829037 | Allele Type | Transgenic |
Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(Thy1-UBQLN2*P497S)3Mont |
Strain of Origin | C3H or C57BL/6 or C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
description | The transgenic construct was injected into fertilized B6C3/C57BL/6J hybrid eggs. (J239510) |
molecularNote | The transgene was designed to have the modified ~6.5 kbp mouse Thy1.2 promoter (Thy1 sequences extending from the promoter to the intron following exon 4, excluding exon 3 and its flanking introns) followed by a cDNA sequence encoding the human ubiquilin 2 protein harboring a proline-to-serine missense mutation at amino acid 497. UBQLN2 missense mutations (including this one) are linked to dominant inheritance of amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Founder line 3 was found to have 5 copies of the transgene. |