Tg(Ckm-GSN*D187N)AJewe
Transgene Detail

Summary

• 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
• Alliance: Tg(Ckm-GSN*D187N)AJewe page

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
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  GSN (2934)

  Gsn	(MGI:95851)

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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)