Phenotypes Associated with This Genotype

Genotype
MGI:3715607

• Allelic Composition: Thrb^tm1.1Syc/Thrb⁺
• Genetic Background: involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss

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

Histology of thyroid glands of wild-type, Thrb^tm1.1Syc/Thrb⁺ and Thrb^tm1.1Syc/Thrb^tm1.1Syc mice.

endocrine/exocrine glands

abnormal thyroid follicle morphology ( J:65885 )

• increase in the size of individual follicles of the thyroid gland

enlarged thyroid gland ( J:65885 )

• thyroid gland is about 2.4-fold larger than in wild-type

abnormal pituitary gland physiology ( J:65885 )

• the increase in TSH level despite increases in thyroid hormone levels, indicate that the pituitary is resistant to the action of thyroid hormone

homeostasis/metabolism

increased circulating thyroid-stimulating hormone level ( J:65885 )

• TSH is 2.1-fold higher than in wild-type

increased circulating thyroxine level ( J:65885 )

• 2.5-fold higher circulating T4 concentration than in wild-type

increased circulating triiodothyronine level ( J:65885 )

• 2-fold increase in the circulating total T3 concentration

skeleton

short femur ( J:65885 )

• femurs are 4% shorter

short tibia ( J:65885 )

• tibias are 5% shorter

limbs/digits/tail

short femur ( J:65885 )

• femurs are 4% shorter

short tibia ( J:65885 )

• tibias are 5% shorter

nervous system

abnormal pituitary gland physiology ( J:65885 )

• the increase in TSH level despite increases in thyroid hormone levels, indicate that the pituitary is resistant to the action of thyroid hormone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
thyroid hormone resistance syndrome		DOID:11633	OMIM:188570 OMIM:274300	J:65885