Duox2^thyd
Spontaneous Allele Detail

Summary

• Symbol: Duox2^thyd
• 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: Duox2^thyd page

Mutation origin

• Strain of Origin: B6.129-Tnfrsf1a^tm1Mak/J

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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: 4 reference(s)