Dio2^em1Acb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dio2^em1Acb
• Name: deiodinase, iodothyronine, type II; endonuclease-mediated mutation 1, Antonio C Bianco
• MGI ID: MGI:6758247
• Synonyms: Ala92-Dio2
• Gene: Dio2 Location: Chr12:90691326-90705812 bp, - strand Genetic Position: Chr12, 44.05 cM
• Alliance: Dio2^em1Acb page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a proline to alanine substitution at residue 92 (p.P92A). This corresponds to the Thr92Ala polymorphism seen in 12-36% of humans. (J:271339)

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 Dio2 Mutation: 23 strains or lines available

References

• Original: J:271339 Jo S, et al., Type 2 deiodinase polymorphism causes ER stress and hypothyroidism in the brain. J Clin Invest. 2019 Jan 2;129(1):230-245
• All: 4 reference(s)