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Nf1tm1Tyj
Targeted Allele Detail
Nomenclature
Symbol: Nf1tm1Tyj
Name: neurofibromatosis 1; targeted mutation 1, Tyler Jacks
MGI ID: MGI:1857478
Synonyms: Nf1-, Nf1n31
Gene: Nf1  Location: Chr11:79339693-79581612 bp, + strand  Genetic Position: Chr11, 46.74 cM, cytoband B4-5
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:18542
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced the first 42 codons of exon 31, the exon 31 splice acceptor site, and approximately 2 kb of intron 30. This allele is a null allele; no stable full-length protein is made. (J:18542)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 8 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Nf1 Mutation:  21 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Astrocytoma (J:64364)

References
Original:  J:18542 Jacks T, et al., Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet. 1994 Jul;7(3):353-61
All:  73 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/17/2015
MGI 5.21
The Jackson Laboratory