Phenotypes associated with this allele

• Allele Symbol: Ttr^tm2(TTR)Kymm
• Allele Name: targeted mutation 2, Ken-ichi Yamamura
• Allele ID: MGI:3838182
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttr^tm2(TTR)Kymm/Ttr^tm2(TTR)Kymm	B6.Cg-Ttr^tm2(TTR)Kymm	MGI:3838188
ht2	Ttr^tm2(TTR)Kymm/Ttr^+	B6.Cg-Ttr^tm2(TTR)Kymm	MGI:3838187
ht3	Ttr^tm2(TTR)Kymm/Ttr^tm3(TTR*)Kymm	B6.Cg-Ttr^tm2(TTR)Kymm/Ttr^tm3(TTR*)Kymm	MGI:3838189
cx4	Rbp4^tm1(RBP4)Zhel/Rbp4^tm1(RBP4)Zhel Ttr^tm2(TTR)Kymm/Ttr^tm2(TTR)Kymm	B6.Cg-Ttr^tm2(TTR)Kymm Rbp4^tm1(RBP4)Zhel	MGI:6196486
cx5	Rbp4^tm1(RBP4)Zhel/Rbp4^tm1(RBP4)Zhel Ttr^tm2(TTR)Kymm/Ttr^tm3(TTR*)Kymm	Not Specified	MGI:6196480

Genotype
MGI:3838188

hm1

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

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

homeostasis/metabolism

decreased circulating thyroxine level ( J:146510 )

• circulating T4 levels are decreased by half compared to controls

decreased circulating triiodothyronine level ( J:146510 )

• circulating levels of T3 are slightly decreased in the blood similar to levels in null homozygotes

abnormal circulating protein level ( J:146510 )

• circulating retinol binding protein levels are reduced by around 60%

abnormal retinol level ( J:146510 )

• serum retinol levels are reduced by around 95% compared to controls

Genotype
MGI:3838187

ht2

• Allelic Composition: Ttr^tm2(TTR)Kymm/Ttr⁺
• Genetic Background: B6.Cg-Ttr^tm2(TTR)Kymm

homeostasis/metabolism

decreased circulating thyroxine level ( J:146510 )

• circulating T4 levels are decreased by around 10% compared to controls

decreased circulating triiodothyronine level ( J:146510 )

• circulating levels of T3 are slightly decreased in the blood similar to levels in null homozygotes

abnormal circulating protein level ( J:146510 )

• circulating retinol binding protein levels are reduced by over 10%

abnormal retinol level ( J:146510 )

• serum retinol levels are reduced by around 40% compared to controls

Genotype
MGI:3838189

ht3

• 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:6196486

cx4

• Allelic Composition: Rbp4^{tm1(RBP4)Zhel}/Rbp4^{tm1(RBP4)Zhel}; Ttr^tm2(TTR)Kymm/Ttr^tm2(TTR)Kymm
• Genetic Background: B6.Cg-Ttr^tm2(TTR)Kymm Rbp4^{tm1(RBP4)Zhel}

homeostasis/metabolism

amyloidosis ( J:260683 )

• amyloid deposition is first seen in the alimentary tract at 12 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 fewer deposits than in Ttr^tm2(TTR)Kymm/ Ttr^{tm3(TTR*)Kymm} Rbp4^{tm1(RBP4)Zhel}/ Rbp4^{tm1(RBP4)Zhel} mice

• amyloid deposition in the kidney is seen in only the wall of a small vessel of one mouse

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 )

• anti-human TTR+ deposits are seen in all mice 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)
transthyretin amyloidosis		DOID:0050638	OMIM:105210	J:260683

Genotype
MGI:6196480

cx5

• 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)
transthyretin amyloidosis		DOID:0050638	OMIM:105210	J:260683