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

Symbol:	Psen1tm1Shn
Name:	presenilin 1; targeted mutation 1, Jie Shen
MGI ID:	MGI:1857974
Synonyms:	PS1-
Gene:	Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance:	Psen1tm1Shn page

Germline Transmission:	Earliest citation of germline transmission: J:40365
Parent Cell Line:	AB2.1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 3 of the Psen1 gene, encoding the translation initiation codon, was deleted and replaced with a neomycin cassette. Northern blots of brain tissue from homozygous mutant mice showed a small amount of mutant Psen1 mRNA, smaller in size than wild-type Psen1. IP-Western blotting detected no C-terminal protein fragment in homozygous mutant mice. The authors conclude that this mutant is a null allele. (J:40365)

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

In Mice Carrying this Mutation:	99 assay results
In Structures Affected by this Mutation:	22 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Psen1 Mutation:	46 strains or lines available

Original:	J:40365 Shen J, et al., Skeletal and CNS defects in Presenilin-1-deficient mice. Cell. 1997 May 16;89(4):629-39
All:	25 reference(s)