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Tg(Ckm-GSN*D187N)AJewe
Transgene Detail
Nomenclature
Symbol: Tg(Ckm-GSN*D187N)AJewe
Name: transgene insertion A, Jeffery W Kelly
MGI ID: MGI:4353799
Transgene: Tg(Ckm-GSN*D187N)AJewe  Location: unknown  
Muscle of Tg(Ckm-GSN*D187N)AJewe/0 mice exhibit extensive amyloidogenesis

Show the 2 phenotype image(s) involving this allele.

Transgene
origin
Strain of Origin:  C57BL/6J
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Ckm-GSN*D187N)AJewe expresses 1 gene
 
Mutation detailsThe 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)
Phenotypes
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Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
References
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
All:  1 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
05/12/2015
MGI 5.21
The Jackson Laboratory