Psen1<tm1Bdes> Targeted Allele Detail MGI Mouse (MGI:2149116)

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)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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)

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