Thra^tm1Syc
Targeted Allele Detail

Summary

• Symbol: Thra^tm1Syc
• Name: thyroid hormone receptor alpha; targeted mutation 1, Sheue-yann Cheng
• MGI ID: MGI:2387580
• Synonyms: TRalpha1^PV
• Gene: Thra Location: Chr11:98631539-98659832 bp, + strand Genetic Position: Chr11, 62.58 cM, cytoband D-E
• Alliance: Thra^tm1Syc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:73446
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A targeting construct was engineered to incorporate a mutation of Thrb into the endogenous locus. The construct contained a frameshift mutation followed by a portion of human THRB obtained from a patient with resistance to thyroid hormone (RTH). Expression of the mutant allele was confirmed by Northern blot analysis. (J:73446)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Thra Mutation: 40 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Thyroxine-Resistant Skeletal Dysplasia J:217018. This is a newly identified genetic disorder that has not been officially named.

References

• Original: J:73446 Kaneshige M, et al., A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):15095-100
• All: 17 reference(s)