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Phenotypes Associated with This Genotype
Genotype
MGI:4429562
Allelic
Composition
Hsf1tm1Ijb/Hsf1tm1Ijb
Tg(TTR-V30M)15Imeg/0
Genetic
Background
involves: 129S6/SvEvTac * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf1tm1Ijb mutation (1 available); any Hsf1 mutation (7 available)
Tg(TTR-V30M)15Imeg mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• as in human patients with familial amyloidotic polyneuropathy, no transthyretin deposition is observed in the brain and spinal cord
• after 24 months, mice exhibit a decrease in the number of unmyelinated fibers and myelinated fibers in sciatic nerves with transthyretin depositions unlike in wild-type mice
• at 3 months, some mice exhibit transthyretin depositions in the dorsal root ganglion unlike wild-type or Tg(TTR-V30M)15Imeg mice
• penetrance of thranthyretin increases with age
• mice exhibit transthyretin depositions in the sciatic nerve unlike wild-type or Tg(TTR-V30M)15Imeg mice
• at 24 months, mice exhibit collagen pockets indicating neurodegeneration unlike in Tg(TTR-V30M)15Imeg mice

digestive/alimentary system
• from 1 to 24 months of age, mice exhibit transthyretin depositions in the gastrointestinal tract unlike in wild-type mice
• mice exhibit a 2- to 3-fold higher penetrance of transthyretin deposition compared with Tg(TTR-V30M)15Imeg mice
• at 6 months, mice exhibit amyloid depositions in the stomach unlike wild-type mice
• a higher number of older mice exhibit amyloid depositions in the stomach

immune system
• in sciatic nerves and neurons of ganglion that exhibit transthyretin deposition
• in sciatic nerves and neurons of ganglion that exhibit transthyretin deposition

integument
• at 3 months, mice exhibit transthyretin depositions in the skin unlike wild-type or Tg(TTR-V30M)15Imeg mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Amyloidosis, Hereditary, Transthyretin-Related 105210 J:156658


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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory