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| Nomenclature |
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Symbol:
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Psen2tm1Ber
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Name:
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presenilin 2;
targeted mutation 1, Alan Bernstein
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MGI ID: |
MGI:1930939 |
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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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:58465
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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 four codons in exon 5, corresponding to an RCYK motif in the second transmembrane domain, with a neomycin cassette. Brain extracts from homologous mutant mice showed no detectable Psen2 on Western blots using antibodies directed against the hydrophilic loop and the amino terminus of the protein. (J:58465)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Psen2 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:58465
Donoviel DB et al.,
"Mice lacking both presenilin genes exhibit early embryonic patterning defects."
Genes Dev 1999 Nov 1;13(21):2801-10
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All: |
21 reference(s)
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Analysis Tools
