Esr1^em1Ksk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Esr1^em1Ksk
• Name: estrogen receptor 1 (alpha); endonuclease-mediated mutation 1, Kenneth S Korach
• MGI ID: MGI:6470475
• Synonyms: Esr1-Q
• Gene: Esr1 Location: Chr10:4561989-4955633 bp, + strand Genetic Position: Chr10, 2.03 cM
• Alliance: Esr1^em1Ksk page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A guide RNA (CGAGAAGGTGGACCTGATCANGG) was designed to insert a missense mutation resulting in a glutamine to histidine change at amino acid 379 (Q379H). This mutation is analogous to the human ESR1 Q375H mutation associated with estrogen insensitivity syndrome (EIS). Four other silent bp changes were also introduced in order to prevent re-targeting and mis-targeting. (J:295332)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Esr1 Mutation: 67 strains or lines available

References

• Original: J:295332 Li Y, et al., ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome Profile. Endocrinology. 2020 Jun 1;161(6)
• All: 1 reference(s)