Phenotypes Associated with This Genotype

Genotype
MGI:3710595

• Allelic Composition: Slc16a2^tm1Dgen/Y
• Genetic Background: either: (involves: C57BL/6N) or (involves: NMRI)

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

homeostasis/metabolism

abnormal thyroxine level ( J:120737 )

♂ • cerebellum and cerebrellum T4 content is reduced to 53% and 78%, respectively

♂ • however, clearance from the blood and liver uptake is normal

decreased circulating thyroxine level ( J:120737 )

♂ • 34% reduction in serum T4 levels

abnormal triiodothyronine level ( J:120737 )

♂ • uptake of [¹²⁵I]T3 in the brain is severely impaired

♂ • cerebellum and cerebrellum T3 content is reduced to 61% and 66%, respectively

♂ • however, clearance from the blood and liver uptake is normal

increased circulating triiodothyronine level ( J:120737 )

♂ • 203% increase in serum T3 levels

nervous system

nervous system phenotype ( J:120737 )

♂N • unlike in human patients no reduction in brain size or brain morphology was observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Allan-Herndon-Dudley syndrome		DOID:0050631	OMIM:300523	J:120737