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

Symbol:	Psen1tm1Hko
Name:	presenilin 1; targeted mutation 1, Haruhiko Koseki
MGI ID:	MGI:1932738
Synonyms:	e delta9, Psen1deltaE9
Gene:	Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance:	Psen1tm1Hko page

Germline Transmission:	Earliest citation of germline transmission: J:67969
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 9, encoding a proteolytic cleavage site, and flanking intronic sequence were replaced with a neomycin resistance gene cassette. A reduced level of mRNA was detectable by RT-PCR from this allele; sequence analysis revealed splicing from exon 8 to exon 10 without frameshift. However, Western blot analysis revealed that expression of the protein was abolished, and this allele is suggested to be a null. (J:67969)

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

In Mice Carrying this Mutation:	26 assay results
In Structures Affected by this Mutation:	10 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:67969 Koizumi Ki, et al., The role of presenilin 1 during somite segmentation. Development. 2001 Apr;128(8):1391-402
All:	2 reference(s)