Literature summary for 1.6.3.1 extracted from

Johnson, K.R.; Marden, C.C.; Ward-Bailey, P.; Gagnon, L.H.; Bronson, R.T.; Donahue, L.R.
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2 (2007), Mol. Endocrinol., 21, 1593-1602.

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Application

Application	Comment	Organism
medicine	characterization of mutant V674G. Thyroid glands of mutant mice are goitrous and contain few normal follicles, anterior pituitaries are dysplastic. Serum thyroxine in homozygotes is about one-tenth the level of controls.. the weight of adult mutant mice is approximately half that of littermate controls, and serum IGF-I is reduced. The cochleae of mutant mice exhibit abnormalities characteristic of hypothyroidism, including a delayed formation of the inner sulcus and tunnel of Corti and an abnormally thickened tectorial membrane. Hearing thresholds of adult mutant mice are on average 50-60 decibels above those of controls	Mus musculus

Protein Variants

Protein Variants	Comment	Organism
V674G	spontaneous mutation in exon 16 of the Duox2 gene. Thyroid glands of mutant mice are goitrous and contain few normal follicles, anterior pituitaries are dysplastic. Serum thyroxine in homozygotes is about one-tenth the level of controls. The weight of adult mutant mice is approximately half that of littermate controls, and serum IGF-I is reduced. The cochleae of mutant mice exhibit abnormalities characteristic of hypothyroidism, including a delayed formation of the inner sulcus and tunnel of Corti and an abnormally thickened tectorial membrane. Hearing thresholds of adult mutant mice are on average 50-60 decibels above those of controls	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	-	isoform dual oxidase 2	-

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Release 2023.1 (January 2023)