Phenotypes Associated with This Genotype

Genotype
MGI:3698432

• Allelic Composition: Tpo^R479C/Tpo^R479C
• Genetic Background: involves: ICR

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

mortality/aging

premature death ( J:112930 )

• mean lifespan is ~ 3 months

growth/size/body

prominent forehead ( J:112930 )

• adult mice show a prominent forehead

decreased body size ( J:112930 )

• 15 days after birth, mice are smaller (6.46 g) than normal littermates (8.95 g); at 30 days of age, mutants are extremely small (6.54 g) compared to littermates (20.96 g)

decreased body weight ( J:112930 )

• much less than normal littermates at 15 and 30 days after birth; body weights increase significantly if mice receive thyroid powder-supplemented diet at 30 days of age

disproportionate dwarf ( J:112930 )

• adult mice are characterized by their short trunk

craniofacial

prominent forehead ( J:112930 )

• adult mice show a prominent forehead

vision/eye

exophthalmos ( J:112930 )

• adult mice show prominent eyes

endocrine/exocrine glands

abnormal thyroid follicle morphology ( J:112930 )

• follicles show diminished and disordered colloids

abnormal thyroid follicular cell morphology ( J:112930 )

• cells display hyperproliferation and hypertrophy

enlarged thyroid gland ( J:112930 )

• glands are enlarged due to a diffuse goiter and hypertrophy (in mutants, glands are ~45 mg vs 15 mg in wild-type)

hematopoietic system

decreased erythrocyte cell number ( J:112930 )

• significantly lower than normal

decreased hematocrit ( J:112930 )

• significantly lower than normal

small spleen ( J:112930 )

• at 3 months, spleens are considerably smaller than normal mice

homeostasis/metabolism

increased circulating thyroid-stimulating hormone level ( J:112930 )

• levels are 20 times the levels in wild-type

abnormal enzyme/coenzyme activity ( J:112930 )

• thyroid peroxidase activity is undetectable in thyroid microsomal fractions

immune system

small spleen ( J:112930 )

• at 3 months, spleens are considerably smaller than normal mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital hypothyroidism		DOID:0050328	OMIM:PS275200	J:112930