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Allele : Orai1<tm1Fesk> ORAI calcium release-activated calcium modulator 1; targeted mutation 1, Stefan Feske

Primary Identifier  MGI:3832514 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Orai1
Transmission  Germline Strain of Origin  C57BL/6NTac
Is Recombinase  false Is Wild Type  false
description  ES cell line = B6/3
molecularNote  Exon 1 was replaced with one in which a C to T transition results in an amino acid substitution of tryptophan for arginine at position 93 (R93W). A self-excising neo cassette was inserted downstream of exon 1 and was subsequently removed. This amino acid substitution mimic the one identified in human SCID patients that abrogates store-operated calcium entry and calcium release-activated channel currents.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Orai1<R93W>,
  • Orai1<R93W>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

8 Publication categories