Summary | Transgene origin | Transgene description | Find Mice (IMSR) | References

Symbol:	Tg(Prnp-FUS*H517Q)29Ljh
Name:	transgene insertion 29, Lawrence Hayward
MGI ID:	MGI:5621051
Synonyms:	FUSH517Q, line PQ29, PrP-hFUS(H517Q)
Transgene:	Tg(Prnp-FUS*H517Q)29Ljh  Location: unknown
Alliance:	Tg(Prnp-FUS*H517Q)29Ljh page

Strain of Origin:

(C57BL/6 x SJL)F2

Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Tg(Prnp-FUS*H517Q)29Ljh expresses 1 gene Transgene expresses: Organism Expressed Gene Homolog in Mouse Note human FUS (2521) Fus  (MGI:1353633) human fused in sarcoma H517Q mutant isoform (hFUS*H517Q) that is associated with amyotrophic lateral sclerosis (ALS)   Mutation details: The transgenic construct contains a cDNA sequence encoding the human fused in sarcoma H517Q mutant isoform (hFUS*H517Q) associated with amyotrophic lateral sclerosis (ALS). The cDNA sequence is inserted between exon 2 and exon 3 of mouse prion protein (PrP or Prnp) gene. Line PQ29 is identified with ~2-4 copies of the transgene. The transgene encodes an autosomal recessive missense mutation in the nuclear localization signal at the C-terminus of FUS, resulting in mild mislocalization within the cytoplasm. (J:101977)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available

Original:	J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017;
All:	1 reference(s)