Phenotypes Associated with This Genotype

Genotype
MGI:6110836

• Allelic Composition: Tg(TTR)#Jbux/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

homeostasis/metabolism

amyloidosis ( J:68458 )

• hearts of 16% of mice (20% males and 9% females) over 2 years of age have Congophilic deposits that are positive for human TTR and murine SAP indicating amyloid

• however, deposits are not positive for murine amyloid, indicating that these are TTR amyloid

• deposits have a typical fibrillary structure

• all mice with cardiac amyloid also have Congophilic renal deposits

• kidney Congophilic amyloid deposits are dense in the glomeruli and focal in the interstitium or pelvic fat

• amount of Congophilic deposits in heart and kidneys in females is less than in males

abnormal protein level ( J:68458 )

• 50% and 84% of mice show nonfibrillar, non-Congophilic human transthyretin deposits in the kidneys, heart and gut between 12 and 17 months of age and after 17 months of age, respectively; deposits are also seen in the lungs and tongue

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
transthyretin amyloidosis		DOID:0050638	OMIM:105210	J:68458