NDLI: Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene.

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Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Johnson, Kenneth R. Gagnon, Leona H. Longo-Guess, Chantal M. Harris, Belinda S. Chang, Bo
Description	Author Affiliation: Johnson KR ( The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA, ken.johnson@jax.org.)
Abstract	Thyroid hormone (TH) is essential for proper cochlear development and function, and TH deficiencies cause variable hearing impairment in humans and mice. Thyroid peroxidase (TPO) catalyzes key reactions in TH synthesis, and TPO mutations have been found to underlie many cases of congenital hypothyroidism in human patients. In contrast, only a single mutation of the mouse TPO gene has been reported previously (Tpo(R479C)) but was not evaluated for auditory function. Here, we describe and characterize two new mouse mutations of Tpo with an emphasis on their associated auditory deficits. Mice homozygous for these recessive mutations have dysplastic thyroid glands and lack detectable levels of TH. Because of the small size of mutant mice, the mutations were named teeny (symbol Tpo(tee)) and teeny-2 Jackson (Tpo(tee-2J)). Tpo(tee) is a single base-pair missense mutation that was induced by ENU, and Tpo(tee-2J) is a 64 bp intragenic deletion that arose spontaneously. The Tpo(tee) mutation changes the codon for a highly conserved tyrosine to asparagine (p.Y614N), and the Tpo(tee-2J) mutation deletes a splice donor site, which results in exon skipping and aberrant transcripts. Mutant mice are profoundly hearing impaired with auditory brainstem response (ABR) thresholds about 60 dB above those of non-mutant controls. The maturation of cochlear structures is delayed in mutant mice and tectorial membranes are abnormally thick. To evaluate the effect of genetic background on auditory phenotype, we produced a C3.B6-Tpo(tee-2J) congenic strain and found that ABR thresholds of mutant mice on the C3H/HeJ strain background are 10-12 dB lower than those of mutant mice on the C57BL/6 J background. The Tpo mutant strains described here provide new heritable mouse models of congenital hypothyroidism that will be valuable for future studies of thyroid hormones' role in auditory development and function.
File Format	HTM / HTML
ISSN	15253961
e-ISSN	14387573
DOI	10.1007/s10162-013-0427-7
Journal	Journal of the Association for Research in Otolaryngology
Issue Number	1
Volume Number	15
Language	English
Publisher	Springer
Publisher Date	2014-02-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Otolaryngology Hearing Loss Genetics Physiopathology Hypothyroidism Iodide Peroxidase Mutation Amino Acid Sequence Animals Auditory Threshold Physiology Cochlea Pathology Disease Models, Animal Evoked Potentials, Auditory, Brain Stem Homozygote Complications Mice Mice, Inbred C3h Mice, Inbred C57bl Mice, Mutant Strains Molecular Sequence Data Phenotype Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article
Subject	Otorhinolaryngology Sensory Systems

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