Allele/Variant

Tg(Prnp-SETX*R2136H)1920Als

Species
Mus musculus
Symbol
Tg(Prnp-SETX*R2136H)1920Als
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • R2136H Tg (line 1920)
Description
The human SETX cDNA containing an arginine to histidine substitution at amino acid 2136 (R2136H; c.6407G>A) is under the control of the mouse prion promoter. The R2136H mutation is one of two identified to date in individuals with amyotrophic lateral sclerosis type 4 (ALS4). Two lines were established: 1917 and 1920. Line 1920 shows expression of the transgene at approximately 2.5X that of the endogenous mouse gene.
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

Phenotypes

Disease Associations