Thra^em2Ffla
Endonuclease-mediated Allele Detail

Summary

• Symbol: Thra^em2Ffla
• Name: thyroid hormone receptor alpha; endonuclease-mediated mutation 2, Frederic Flamant
• MGI ID: MGI:6272834
• Synonyms: Thra^E395fs406X, Thra^S2
• Gene: Thra Location: Chr11:98631539-98659832 bp, + strand Genetic Position: Chr11, 62.58 cM, cytoband D-E
• Alliance: Thra^em2Ffla page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Not Specified
• Mutation details: CRISPR-targeting of exon 9 produced a +1 frameshift mutation between codon 395 with a stop codon created a few nucleotides downstream. This mutation is similar to one identified in resistance to thyroid hormone (RTHalpha) patients. (J:268664)

Disease models

Expression

In Structures Affected by this Mutation:

4 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)