Phenotypes associated with this allele

• Allele Symbol: Ttr^{tm3(TTR*)Kymm}
• Allele Name: targeted mutation 3, Ken-ichi Yamamura
• Allele ID: MGI:3838183
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttr^tm3(TTR*)Kymm/Ttr^tm3(TTR*)Kymm	B6.Cg-Ttr^tm3(TTR*)Kymm	MGI:3838190
ht2	Ttr^tm2(TTR)Kymm/Ttr^tm3(TTR*)Kymm	B6.Cg-Ttr^tm2(TTR)Kymm/Ttr^tm3(TTR*)Kymm	MGI:3838189
cx3	Rbp4^tm1(RBP4)Zhel/Rbp4^tm1(RBP4)Zhel Ttr^tm2(TTR)Kymm/Ttr^tm3(TTR*)Kymm	Not Specified	MGI:6196480

Genotype
MGI:3838190

hm1

• Allelic Composition: Ttr^{tm3(TTR*)Kymm}/Ttr^{tm3(TTR*)Kymm}
• Genetic Background: B6.Cg-Ttr^{tm3(TTR*)Kymm}

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

homeostasis/metabolism

abnormal circulating protein level ( J:146510 )

• transthyretin tetramers complexes in the blood are extremely low despite normal expression of knocked-in genes in the liver

• transthyretin dimer complexes in the blood are high

Genotype
MGI:3838189

ht2

• Allelic Composition: Ttr^tm2(TTR)Kymm/Ttr^{tm3(TTR*)Kymm}
• Genetic Background: B6.Cg-Ttr^tm2(TTR)Kymm/Ttr^{tm3(TTR*)Kymm}

homeostasis/metabolism

abnormal circulating protein level ( J:146510 )

• transthyretin tetramer complexes in the blood are extremely low despite normal expression of knocked-in genes in the liver

Genotype
MGI:6196480

cx3

• Allelic Composition: Rbp4^{tm1(RBP4)Zhel}/Rbp4^{tm1(RBP4)Zhel}; Ttr^tm2(TTR)Kymm/Ttr^{tm3(TTR*)Kymm}
• Genetic Background: Not Specified

homeostasis/metabolism

amyloidosis ( J:260683 )

• amyloid deposition is first seen in the alimentary tract at 18 months of age and increases with age; it is first found in the stomach or small intestine and then in the large intestine

• levels of amyloid deposits are higher than in Tg(TTR-V30M)15Imeg/0 mice or mice homozygous for Ttr^tm1Wsb and hemizygous for Tg(TTR-V30M)15Imeg

• amyloid deposition in the heart is seen at 24 months of age, with more deposits than in double homozygous Ttr^tm2(TTR)Kymm and Rbp4^{tm1(RBP4)Zhel} mice

• amyloid deposition is seen in the perineurium of the sciatic nerve at 24 months of age

cardiovascular system

abnormal heart morphology ( J:260683 )

• 10-30% of mice show TTR+ deposits in the heart and kidneys at 12 months of age, 30-50% of mice at 18 months of age, and 30-100% of mice at 24 months of age

digestive/alimentary system

abnormal small intestine morphology ( J:260683 )

• 30% of mice show anit-human TTR-positive deposits in the small intestine at 12 months of age

renal/urinary system

abnormal kidney morphology ( J:260683 )

• 10-30% of mice show TTR+ deposits in the heart and kidneys at 12 months of age, 30-50% of mice at 18 months of age, and 30-100% of mice at 24 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary systemic amyloidosis 1		DOID:0050638	OMIM:105210	J:260683