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| Nomenclature |
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Symbol:
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Psen1tm1Shn
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Name:
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presenilin 1;
targeted mutation 1, Jie Shen
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MGI ID: |
MGI:1857974 |
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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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:40365
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Parent Cell Line:
| AB2.1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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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: Exon 3 of the Psen1 gene, encoding the translation initiation codon, was deleted and replaced with a neomycin cassette. Northern blots of brain tissue from homozygous mutant mice showed a small amount of mutant Psen1 mRNA, smaller in size than wild-type Psen1. IP-Western blotting detected no C-terminal protein fragment in homozygous mutant mice. The authors conclude that this mutant is a null allele. (J:40365)
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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:40365
Shen J et al.,
"Skeletal and CNS defects in Presenilin-1-deficient mice."
Cell 1997 May 16;89(4):629-39
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All: |
17 reference(s)
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Analysis Tools
