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| Nomenclature |
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Symbol:
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Psen1tm1Bdes
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Name:
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presenilin 1;
targeted mutation 1, Bart de Strooper
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MGI ID: |
MGI:2149116 |
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Synonyms: |
PS1- |
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Gene:
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Psen1
Location:
Chr12:83688563-83735199 bp, + strand
Genetic Position: Chr12,
38.84 cM
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Psen1tm1Bdes/Psen1tm1Bdes Psen2tm1Bdes/Psen2tm1Bdes embryos display severe growth retardation at E9.5
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:71037
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
16 reference(s)
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Analysis Tools
