Esr1^tm2.1Cmet
Targeted Allele Detail

Summary

• Symbol: Esr1^tm2.1Cmet
• Name: estrogen receptor 1 (alpha); targeted mutation 2.1, Ciara Metcalfe
• MGI ID: MGI:7481982
• Synonyms: Esr1^loxP.Y541S
• Gene: Esr1 Location: Chr10:4561989-4955633 bp, + strand Genetic Position: Chr10, 2.03 cM
• Alliance: Esr1^tm2.1Cmet page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:335552
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A wild-type Esr1 exon 10 cDNA, followed by a 4x polyadenylation signal, an FRT-flanked PGK-neomycin selection marker, a second loxP site, and a mutated exon 10 containing a tyrosine to serine substitution at amino acid 541 (p.Y542S) replaced exon 10. The PGK-neomycin cassette was removed via flp-mediated recombinase. This corresponds to Y537S, one of the most commonly occurring human ESR1 mutations. Cre-mediated recombination is necessary to remove the wild-type exon 10 and allow expression of the modified exon 10. (J:335552)

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 Esr1 Mutation: 67 strains or lines available

References

• Original: J:335552 Liang J, et al., Giredestrant reverses progesterone hypersensitivity driven by estrogen receptor mutations in breast cancer. Sci Transl Med. 2022 Sep 21;14(663):eabo5959
• All: 1 reference(s)