Phenotypes associated with this allele

• Allele Symbol: Ttr^tm1Wsb
• Allele Name: targeted mutation 1, William S Blaner
• Allele ID: MGI:1857264
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttr^tm1Wsb/Ttr^tm1Wsb	involves: 129S/SvEv	MGI:2654899
hm2	Ttr^tm1Wsb/Ttr^tm1Wsb	involves: 129S/SvEv * MF1	MGI:2654900
ht3	Ttr^tm1Wsb/Ttr^+	involves: 129S/SvEv * MF1	MGI:3848329
cx4	Tg(TTR-V30M)15Imeg/0 Ttr^tm1Wsb/Ttr^tm1Wsb	involves: 129S/SvEv * C57BL/6	MGI:6196488

Genotype
MGI:2654899

hm1

• Allelic Composition: Ttr^tm1Wsb/Ttr^tm1Wsb
• Genetic Background: involves: 129S/SvEv

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

homeostasis/metabolism

abnormal blood homeostasis ( J:22576 )

• in serum, mutants show increased thyroxine binding to thyroxine-binding globulin

decreased circulating thyroxine level ( J:22576 )

• 50% decrease in total serum thyroxine levels but normal free serum thyroxine levels indicating that mice are euthyroid

• no differences in triiodothyronine or thyroid-stimulating hormone levels

vision/eye

vision/eye phenotype ( J:73380 )

N • homozygotes display normal retinal anatomy and function, with no differences in the localization of short and mid-long wavelength cone opsins or in the receptoral (P3) and post-receptoral (b-wave) ERG components relative to wild-type mice

Genotype
MGI:2654900

hm2

• Allelic Composition: Ttr^tm1Wsb/Ttr^tm1Wsb
• Genetic Background: involves: 129S/SvEv * MF1

homeostasis/metabolism

decreased circulating levels of thyroid hormone ( J:4183 )

• homozygotes display a significant reduction in plasma thyroid hormone levels relative to wild-type control mice

• however, the thyroid is morphologically normal and circulating thyroid-stimulating hormone (TSH) levels remain unaffected

decreased circulating thyroxine level ( J:4183 )

• homozygotes show a ~3-fold decrease in total circulating T₄ levels relative to wild-type control mice

decreased circulating triiodothyronine level ( J:4183 )

• homozygotes show a ~35% reduction in total circulating T₃ levels relative to wild-type control mice

abnormal circulating protein level ( J:4183 )

• homozygotes show a 97% reduction in circulating retinol binding protein levels relative to wild-type control mice

abnormal retinol level ( J:4183 )

• homozygotes exhibit no detectable plasma retinol (<6% of wild-type value)

abnormal retinol metabolism ( J:4183 )

• homozygotes exhibit a defective plasma retinol transport system but do not exhibit any symptoms of vitamin A deficiency

Genotype
MGI:3848329

ht3

• Allelic Composition: Ttr^tm1Wsb/Ttr⁺
• Genetic Background: involves: 129S/SvEv * MF1

homeostasis/metabolism

decreased circulating thyroxine level ( J:4183 )

• heterozygotes show an intermediate reduction in total circulating T₄ levels relative to homozygous mutant and wild-type control mice

decreased circulating triiodothyronine level ( J:4183 )

• heterozygotes show an intermediate reduction in total circulating T₃ levels relative to homozygous mutant and wild-type control mice

Genotype
MGI:6196488

cx4

• Allelic Composition: Tg(TTR-V30M)15Imeg/0; Ttr^tm1Wsb/Ttr^tm1Wsb
• Genetic Background: involves: 129S/SvEv * C57BL/6

homeostasis/metabolism

amyloidosis ( J:260683 )

• amyloid deposition is seen only in the intestinal tract, first found in the alimentary tract at 12 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 )

• 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