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

Symbol:	Psen1tm2Psgh
Name:	presenilin 1; targeted mutation 2, Peter St George-Hyslop
MGI ID:	MGI:2446469
Synonyms:	Ps1-
Gene:	Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance:	Psen1tm2Psgh page

Germline Transmission:	Earliest citation of germline transmission: J:80624
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Inserted expressed sequence, Null/knockout) Mutation:    Disruption caused by insertion of vector   Mutation details: A methionine to leucine missense mutation (M146L) was introduced into exon 6 via homologous recombination of a construct modified by PCR-mediated mutagenesis and containing a neomycin selection cassette approximately 150 bp into intron 6. The expected mutant transcript was undetected by Northern blot analysis, possibly due to the neo cassette affecting either expression or proper splicing. Low levels of transcript (0.5 to 1% of wild-type) were detected by RT-PCR analysis of RNA obtained from the brain and dorsal spinal cord, however no protein was identified by Western blot analysis. Accumulations of amyloid beta (A4) precursor protein (APP) fragments resulting from alpha- and beta-cleavage in the absence of gamma-cleavage further indicated the complete loss of normal protein expression. (J:80624)

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: 0 strains available      Cell Lines: 0 lines available
Carrying any Psen1 Mutation:	46 strains or lines available

Original:	J:80624 Rozmahel R, et al., Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP. Neurobiol Aging. 2002 Mar-Apr;23(2):187-94
All:	4 reference(s)