Phenotypes Associated with This Genotype

Genotype
MGI:4429562

• Allelic Composition: Hsf1^tm1Ijb/Hsf1^tm1Ijb; Tg(TTR-V30M)15Imeg/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

nervous system phenotype ( J:156658 )

N • as in human patients with familial amyloidotic polyneuropathy, no transthyretin deposition is observed in the brain and spinal cord

abnormal axon morphology ( J:156658 )

• 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

abnormal dorsal root ganglion morphology ( J:156658 )

• 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

abnormal sciatic nerve morphology ( J:156658 )

• mice exhibit transthyretin depositions in the sciatic nerve unlike wild-type or Tg(TTR-V30M)15Imeg mice

neurodegeneration ( J:156658 )

• at 24 months, mice exhibit collagen pockets indicating neurodegeneration unlike in Tg(TTR-V30M)15Imeg mice

digestive/alimentary system

abnormal digestive system morphology ( J:156658 )

• 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

abnormal stomach morphology ( J:156658 )

• 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

increased interleukin-1 beta secretion ( J:156658 )

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

increased tumor necrosis factor secretion ( J:156658 )

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

integument

abnormal skin morphology ( J:156658 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
transthyretin amyloidosis		DOID:0050638	OMIM:105210	J:156658