Esr1^tm1Mul
Targeted Allele Detail

Summary

• Symbol: Esr1^tm1Mul
• Name: estrogen receptor 1 (alpha); targeted mutation 1, William J Muller
• MGI ID: MGI:7529798
• Synonyms: ESR1^Y541S
• Gene: Esr1 Location: Chr10:4561989-4955633 bp, + strand Genetic Position: Chr10, 2.03 cM
• Alliance: Esr1^tm1Mul page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:303707
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A loxP site was inserted into intron 8 and a neomycin resistance gene cassette, a second loxP site and a modified exon 9 were inserted downstream of the gene. The modification entails the change of tyrosine codon 541 (TAT) to serine (TCC) (p.Y541S). This mutation, in the ligand-binding domain (LBD) of the encoded receptor, leads to its constitutive activation and is the equivalent of the human p.Y537S mutation found in endocrine-resistant metastatic tumors. This allele expresses the wildtype transcript. Only after Cre-mediated deletion of the endogenous exon 9 and neo cassette, will the allele express the mutated transcript. (J:303707)

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: 69 strains or lines available

References

• Original: J:303707 Simond AM, et al., Point-activated ESR1(Y541S) has a dramatic effect on the development of sexually dimorphic organs. Genes Dev. 2020 Oct 1;34(19-20):1304-1309
• All: 1 reference(s)