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| Nomenclature |
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Symbol:
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Psen2tm1Bdes
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Name:
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presenilin 2;
targeted mutation 1, Bart de Strooper
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MGI ID: |
MGI:2149117 |
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Synonyms: |
PS2- |
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Gene:
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Psen2
Location:
Chr1:180227004-180263438 bp, - strand
Genetic Position: Chr1,
84.19 cM
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Phenotypical analysis of Psen2tm1Bdes/Psen2tm1Bdes mice
Show the 2 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:58118
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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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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Replacement of exon 5 by a hygromycin cassette resulted in a frame shift between exons 4 and 6. Northern blots of RNA from brain, kidney, lung, heart, and liver of homozygous mutant mice confirmed the null mutation of the Psen2 gene. Western blots of the same tissues from homozygous mutant mice using antibodies specific for both the N- and C-termini of the Psen2 protein confirmed the mutation. (J:58118)
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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:58118
Herreman A et al.,
"Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency."
Proc Natl Acad Sci U S A 1999 Oct 12;96(21):11872-7
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All: |
13 reference(s)
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Analysis Tools
