Allele/Variant

Tg(Thy1-UBQLN2*P506T)6Mont

Species
Mus musculus
Symbol
Tg(Thy1-UBQLN2*P506T)6Mont
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • P506T
Description
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-threonine mutation at amino acid 506. UBQLN2 missense mutations (including this one) are linked to dominant inheritance of amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
    Disease
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