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Transgene Detail
Symbol: Tg(Prnp-SETX*R2136H)1920Als
Name: transgene insertion 1920, Albert La Spada
MGI ID: MGI:6881754
Synonyms: R2136H Tg (line 1920)
Transgene: Tg(Prnp-SETX*R2136H)1920Als  Location: unknown  
Alliance: Tg(Prnp-SETX*R2136H)1920Als page
Strain of Origin:  Not Specified
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(Prnp-SETX*R2136H)1920Als expresses 1 gene
Mutation detailsThe 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. (J:320844)
View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Original:  J:320844 Bennett CL, et al., Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathol. 2018 Sep;136(3):425-443
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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MGI 6.22
The Jackson Laboratory