Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Duox2thyd
Name:	dual oxidase 2; thyroid dyshormonogenesis
MGI ID:	MGI:3712359
Gene:	Duox2  Location: Chr2:122109728-122128930 bp, - strand  Genetic Position: Chr2, 60.61 cM
Alliance:	Duox2thyd page

Strain of Origin:

B6.129-Tnfrsf1atm1Mak/J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: A spontaneous T-to-G transition (A-to-C on forward strand) in exon 16 causes a change from a highly conserved valine to glycine at amino acid position 674 (p.V674G). (J:121821) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Duox2 Mutation:	73 strains or lines available

Original:	J:121821 Johnson KR, et al., Congenital hypothyroidism dwarfism and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. Mol Endocrinol. 2007 Jul;21(7):1593-602
All:	3 reference(s)