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Duox2thyd
Spontaneous Allele Detail
Summary
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
Mutation
origin
Strain of Origin:  B6.129-Tnfrsf1atm1Mak/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory