Phenotypes associated with this allele

• Allele Symbol: Slc16a2^tm1.1Sref
• Allele Name: targeted mutation 1.1, Samuel Refetoff
• Allele ID: MGI:3687950
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc16a2^tm1.1Sref/Slc16a2^tm1.1Sref	involves: 129P2/OlaHsd * C57BL/6J	MGI:3688511
ot2	Slc16a2^tm1.1Sref/Y	involves: 129P2/OlaHsd * C57BL/6J	MGI:3688509
ot3	Slc16a2^tm1.1Sref/Y	involves: 129/Sv * 129P2/OlaHsd	MGI:3688510

Genotype
MGI:3688511

hm1

• Allelic Composition: Slc16a2^tm1.1Sref/Slc16a2^tm1.1Sref
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

homeostasis/metabolism

increased triiodothyronine level ( J:113732 )

♀ • mutants have higher serum T3 levels than female heterozygous littermates

abnormal circulating hormone level ( J:113732 )

♀ • serum levels of rT3 (reverse T3, competitive inhibitor of T3) are lower than in heterozygous littermates

decreased circulating thyroxine level ( J:113732 )

♀ • T4 serum levels are lower than female heterozygous littermates

Genotype
MGI:3688509

ot2

• Allelic Composition: Slc16a2^tm1.1Sref/Y
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

homeostasis/metabolism

decreased triiodothyronine level ( J:113732 )

♂ • after injection of L-T3, cerebrum in mutants has 2-10 times lower T3 content than wild-type at 4, 6, 16 and 20 hours, while serum and liver levels follow the same time course of disappearance in both genotypes

♂ • at baseline, T3 content in cerebrum is 1.8 times lower than in wild-type

increased triiodothyronine level ( J:113732 )

♂ • mutants have higher serum T3 levels than male wild-type littermates

♂ • baseline T3 content in mutant liver is 2.3-fold higher than in wild-type

abnormal circulating hormone level ( J:113732 )

♂ • serum levels of rT3 (reverse T3, competitive inhibitor of T3) are lower than in wild-type littermates

decreased circulating thyroxine level ( J:113732 )

♂ • T4 serum levels are lower than male wild-type littermates

abnormal circulating triiodothyronine level ( J:113732 )

♂ • a 6-fold higher dose of L-T3 is needed to achieve full suppression of serum TSH levels in mutants vs wild-type than dose necessary to correct hypothyroidism induced by low iodine/0.15% propylthiouracil diet

decreased circulating cholesterol level ( J:113732 )

♂ • serum cholesterol levels are decreased compared to wild-type, indicating liver thyrotoxicosis

abnormal enzyme/coenzyme level ( J:113732 )

♂ • glutathione S transferase alpha 2 (Gsta2) baseline level and following suppressive L-T3 dose is decreased vs wild-type

♂ • L-T3 treatment does not change expression of D3 (Dio3) in mutants compared to a >2-fold increase in wild-type

increased circulating alkaline phosphatase level ( J:113732 )

♂ • serum levels are higher than in wild-type, indicating liver thyrotoxicosis

increased thyroid-stimulating hormone level ( J:113732 )

♂ • in 16 week old mice, baseline serum TSH concentration is significantly higher (51.5 mU/L) than in wild-type male littermates (20mU/L)

abnormal enzyme/coenzyme activity ( J:113732 )

♂ • at baseline, level of D1(Dio1) activity is 3.1-fold higher in liver compared to wild-type

♂ • at baseline, level of D2 (Dio2) activity is increased 10.6 fold

Genotype
MGI:3688510

ot3

• Allelic Composition: Slc16a2^tm1.1Sref/Y
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd

homeostasis/metabolism

increased triiodothyronine level ( J:113732 )

♂ • mutants have higher serum T3 levels than male wild-type littermates

abnormal circulating hormone level ( J:113732 )

♂ • serum levels of rT3 (reverse T3, competitive inhibitor of T3) are lower than wild-type littermates

decreased circulating thyroxine level ( J:113732 )

♂ • T4 serum levels are lower than male wild-type littermates