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Nf2tm1Tyj
Targeted Allele Detail
Summary
Symbol: Nf2tm1Tyj
Name: neurofibromin 2; targeted mutation 1, Tyler Jacks
MGI ID: MGI:1857941
Synonyms: Merlin-, Nf2-, Nf2KO2-3
Gene: Nf2  Location: Chr11:4715845-4799536 bp, - strand  Genetic Position: Chr11, 3.0 cM
Alliance: Nf2tm1Tyj page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:40596
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Nf2tm1Tyj
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nf2 Mutation:  65 strains or lines available
References
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
All:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory