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| Nomenclature |
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Symbol:
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Nf1tm1Cbr
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Name:
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neurofibromatosis 1;
targeted mutation 1, Camilyn Brannan
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MGI ID: |
MGI:2137365 |
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Synonyms: |
Nf123a- |
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Gene:
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Nf1
Location:
Chr11:79339693-79581612 bp, + strand
Genetic Position: Chr11,
46.74 cM, cytoband B4-5
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:68489
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Parent Cell Line:
| CJ7 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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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: A neomycin resistance cassette replaced 300 bp of genomic DNA including exon 23a. RT-PCR analysis of brain detected neurofibromin type I but not the type II isoform in homozygous mutant mice. Western blot analysis detected the type I but not the type II neurofibronin in brain of homozygous mutant mice. Immunohistochemical analysis of brain did not detect type II neurofibromin isoform in homozygous mutant mice. (J:68489)
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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:68489
Costa RM et al.,
"Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1."
Nat Genet 2001 Apr;27(4):399-405
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All: |
2 reference(s)
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Analysis Tools
