|
|
| Nomenclature |
|
Symbol:
|
Psen1tm1Tak
|
|
Name:
|
presenilin 1;
targeted mutation 1, Junji Takeda
|
|
MGI ID: |
MGI:3583662 |
|
Synonyms: |
mPS1, PS1 I213T, PS1/I213T |
|
Gene:
|
Psen1
Location:
Chr12:83688563-83735199 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 (knock-in) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: The I213T mutation was inserted into exon 7. 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
20 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: |
5 reference(s)
|
|
Analysis Tools
