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Allele : Thra<tm1Syc> thyroid hormone receptor alpha; targeted mutation 1, Sheue-yann Cheng

Primary Identifier  MGI:2387580 Allele Type  Targeted
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Thra
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
description 

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

molecularNote  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.
  • mutations:
  • Insertion
  • synonyms:
  • TRalpha1<PV>,
  • TRalpha1<PV>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

20 Publication categories