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Psen1tm3.1Shn
Targeted Allele Detail
Nomenclature
Symbol: Psen1tm3.1Shn
Name: presenilin 1; targeted mutation 3.1, Jie Shen
MGI ID: MGI:5427478
Synonyms: c.548GTKI
Gene: Psen1  Location: Chr12:83688152-83735199 bp, + strand  Genetic Position: Chr12, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:184454
Parent Cell Line:  MKV6.5 (ES Cell)
Strain of Origin:  (C57BL/6 x 129)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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:  39 strains or lines available
References
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)

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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last database update
10/15/2019
MGI 6.14
The Jackson Laboratory