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| Nomenclature |
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Symbol:
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Tg(NEFH)200Jpj
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Name:
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transgene insertion 200, Jean-Pierre Julien
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MGI ID: |
MGI:2182068 |
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Synonyms: |
NF-H43 |
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Transgene:
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Tg(NEFH)200Jpj
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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Not Specified
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: The complete human NFH gene including 9.6 kb of 5' sequences and 13.4 kb of 3' sequences, coding for 43 Lys-Ser-Pro (KSP) phosphorylation sites, was used for the transgene. Expression of the human gene in transgenic animals was confirmed by Western blot analysis. (J:69179, J:69180)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Notes |
Founder 200 is representative of 2 founders carrying 14 and 20 copies of the transgene. These animals express approximately 1.5x - 4x the amount of endogenous mRNA and develop neurological anomalies after the first few weeks of life with progressive severity.
The phenotype is more severe in homozygous mice verses hemizygous mice, implying a correlation between phenotype and expression levels of NEFH.
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| References |
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Original: |
J:69180
Cote F et al.,
"Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis."
Cell 1993 Apr 9;73(1):35-46
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All: |
11 reference(s)
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Analysis Tools
