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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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tg1  Disease Model	Tg(Ckm-GSN*D187N)AJewe/Tg(Ckm-GSN*D187N)AJewe	C57BL/6J-Tg(Ckm-GSN*D187N)AJewe
tg2  Disease Model	Tg(Ckm-GSN*D187N)AJewe/0	C57BL/6J-Tg(Ckm-GSN*D187N)AJewe

Phenotypes:

Affected Systems	tg1	tg2
show or hide all annotated terms
behavior/neurological	√
impaired coordination	√
homeostasis/metabolism	√	√
amyloidosis	√	√
muscle	√	√
abnormal skeletal muscle fiber morphology	√
increased variability of skeletal muscle fiber size		√
centrally nucleated skeletal muscle fibers		√
muscle degeneration		√
muscular atrophy	√
skeletal muscle fiber atrophy	√	√
progressive muscle weakness		√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1	tg2
Finnish type amyloidosis IDs Finnish type amyloidosis       DOID:0050637 OMIM:105120 ORDO:85448 Close	√	√

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)