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

Symbol:	Psen1tm1Tak
Name:	presenilin 1; targeted mutation 1, Junji Takeda
MGI ID:	MGI:3583662
Synonyms:	mPS1, PS1 I213T, PS1/I213T
Gene:	Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance:	Psen1tm1Tak page

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+

Allele Type:    Targeted Mutation:    Insertion   Mutation details: An 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)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	46 strains or lines available

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:	9 reference(s)