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Psen1tm1Tak
Targeted Allele Detail
Nomenclature
Symbol: Psen1tm1Tak
Name: presenilin 1; targeted mutation 1, Junji Takeda
MGI ID: MGI:3583662
Synonyms: mPS1, PS1 I213T, PS1/I213T
Gene: Psen1  Location: Chr12:83688152-83735095 bp, + strand  Genetic Position: Chr12, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:56247
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsAn I213T (p.Ile213Thr) mutation was introduced into exon 7. A neomycin resistance (Neo) gene flanked by two loxP sites was inserted into intron 6 for selection and was subsequently removed via cre-mediated recombination. Northern blot and RT-PCR demonstrated that the levels of transcript in mutants were comparable to that in wild-type. Elevated levels of the amyloid beta peptide 42 were dected in homozygous mice. (J:56247)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
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
Carrying any Psen1 Mutation:  38 strains or lines available
References
Original:  J:56247 Nakano Y, et al., Accumulation of murine amyloidbeta42 in a gene-dosage-dependent manner in PS1 'knock-in' mice. Eur J Neurosci. 1999 Jul;11(7):2577-81
All:  8 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
05/26/2020
MGI 6.15
The Jackson Laboratory