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Allele : Esr1<em1Ksk> estrogen receptor 1 (alpha); endonuclease-mediated mutation 1, Kenneth S Korach

Primary Identifier  MGI:6470475 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Esr1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Esr1-Q,
  • Esr1-Q
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

2 Publication categories

Trail: Allele