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Allele : Tg(Thy1-UBQLN2*P497S)3Mont transgene insertion 3, Mervyn Monteiro

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.
  • mutations:
  • Insertion
  • synonyms:
  • P497S,
  • P497S
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele