Thra^em5Ffla
Endonuclease-mediated Allele Detail

Summary

• Symbol: Thra^em5Ffla
• Name: thyroid hormone receptor alpha; endonuclease-mediated mutation 5, Frederic Flamant
• MGI ID: MGI:6272837
• Synonyms: Thra^M, Thra^N359Y
• Gene: Thra Location: Chr11:98631539-98659832 bp, + strand Genetic Position: Chr11, 62.58 cM, cytoband D-E
• Alliance: Thra^em5Ffla page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting engineered the amino acid substitution of tyrosine for asparagine at position 359 (N359Y). This mutation is similar to one identified in a patient with an atypical presentation of resistance to thyroid hormone (RTHalpha). (J:268664)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

References

• Original: J:268664 Markossian S, et al., CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone. Thyroid. 2018 Jan;28(1):139-150
• All: 1 reference(s)