Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Psen1tm3.1Shn
Name:	presenilin 1; targeted mutation 3.1, Jie Shen
MGI ID:	MGI:5427478
Synonyms:	c.548GTKI
Gene:	Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance:	Psen1tm3.1Shn page

Germline Transmission:	Earliest citation of germline transmission: J:184454
Parent Cell Line:	MKV6.5 (ES Cell)
Strain of Origin:	(C57BL/6 x 129)F1

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Single point mutation   Mutation details: Exon 6 was replaced with a floxed neo cassette and a modified exon 6 with a transversion (c.548G>T) that results in the amino acid substitution of valine for glycine at position 183 (G183V), mimicking a mutation found in family suffering from a frontotemporal dementia (FTD). Cre-mediated recombination removed the neo cassette. (J:184454)

View phenotypes and curated references for all genotypes (concatenated display).

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
Carrying any Psen1 Mutation:	46 strains or lines available

Original:	J:184454 Watanabe H, et al., Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice. J Neurosci. 2012 Apr 11;32(15):5085-96
All:	1 reference(s)