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| Nomenclature |
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Symbol:
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Nf2tm1Tyj
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Name:
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neurofibromatosis 2;
targeted mutation 1, Tyler Jacks
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MGI ID: |
MGI:1857941 |
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Synonyms: |
Merlin-, Nf2-, Nf2KO2-3 |
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Gene:
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Nf2
Location:
Chr11:4765845-4849536 bp, - strand
Genetic Position: Chr11,
3.0 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:40596
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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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: The 3' half of exon 2, all of exon 3 and intervening sequences were replaced by a neomycin cassette inserted in the reverse transcriptional orientation to the gene. RT-PCR analysis demonstrated that an aberrant transcript was expressed from this allele that spliced exon 1 to exon 5. However, immunoblot analysis on extracts derived from homozygous ES cells demonstrated that no stable mutant protein was detectable. (J:40596)
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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:40596
McClatchey AI et al.,
"The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation."
Genes Dev 1997 May 15;11(10):1253-65
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All: |
5 reference(s)
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