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| Nomenclature |
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Symbol:
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Tg(Ckm-GSN*D187N)AJewe
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Name:
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transgene insertion A, Jeffery W Kelly
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MGI ID: |
MGI:4353799 |
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Transgene:
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Tg(Ckm-GSN*D187N)AJewe
Location:
unknown
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Muscle of Tg(Ckm-GSN*D187N)AJewe/0 mice exhibit extensive amyloidogenesis
Show the 2 image(s) involving this allele.
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Transgene
origin |
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Strain of Origin:
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C57BL/6J
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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 mouse promoter was used to drive muscle-specific expression of a human cDNA with mutations that result in an amino acid substitution of asparagine for aspartic acid at position 187 (D187N). This mutation was identified in patients with familial amyloidosis of Finnish type (FAF). Two lines were created (A and B). Line B exhibits sex-linked inheritance. (J:150825)
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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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| References |
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Original: |
J:150825
Page LJ et al.,
"Secretion of amyloidogenic gelsolin progressively compromises protein homeostasis leading to the intracellular aggregation of proteins."
Proc Natl Acad Sci U S A 2009 Jul 7;106(27):11125-30
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All: |
1 reference(s)
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Analysis Tools
