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| Nomenclature |
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Symbol:
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Psen1tm1Mpm
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Name:
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presenilin 1;
targeted mutation 1, Mark P Mattson
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MGI ID: |
MGI:1930937 |
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Synonyms: |
PS1KI, PS1M146V, PS-1 M146V KI, PS1M146VKI- |
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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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:51950
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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-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Point mutations were introduced into the coding region of exon 5 that altered the codons corresponding to amino acids 145 and 146 from isoleucine and methionine to valine and valine, respectively. A lox-P flanked neomycin cassette was also introduced into exon 4. F2 mice exhibited the expected polymorphism of the targeted allele when genomic DNA was amplified with exon 5 specific primers and the products were digested with the appropriate restriction enzyme. Northern blot analysis of total brain RNA using a Psen1 specific antibody showed that the targeted allele was expressed at normal physiological levels in homozygous mutant mice. (J:51950)
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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:51950
Guo Q et al.,
"Increased vulnerability of hippocampal neurons to excitotoxic necrosis in presenilin-1 mutant knock-in mice."
Nat Med 1999 Jan;5(1):101-6
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All: |
123 reference(s)
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Analysis Tools
