Psen1^tm1Bdes
Targeted Allele Detail

Summary

• Symbol: Psen1^tm1Bdes
• Name: presenilin 1; targeted mutation 1, Bart de Strooper
• MGI ID: MGI:2149116
• Synonyms: PS1-
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm1Bdes page

Psen1^tm1Bdes/Psen1^tm1Bdes Psen2^tm1Bdes/Psen2^tm1Bdes embryos display severe growth retardation at E9.5

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:71037
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Insertion of a neomycin cassette resulted in interruption of the open reading frame in exon 7 of the gene. This position corresponds to 10 amino acid residues carboxyterminal of the third transmembrane domain of the protein. Northern blot analysis of whole embryo RNA showed no detectable mRNA in homozygous mutant embryos. Western blot analysis showed an absence of the 17 kD C-terminal fragment of the protein in homozygous mutant embryos. (J:71037)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Psen1 Mutation: 48 strains or lines available

References

• Original: J:71037 De Strooper B, et al., Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature. 1998 Jan 22;391(6665):387-90
• All: 21 reference(s)