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Allele : Tg(Cybb*H338Y)#Sckc transgene insertion, Chi-Chang Shieh

Primary Identifier  MGI:6317260 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(Cybb*H338Y)#Sckc
Strain of Origin  129S/SvEv-Gpi1<c> Is Recombinase  false
Is Wild Type  false
molecularNote  A mouse BAC containing the gene was modified with a c.1012C>T substitution to change histidine codon 338 (CAC) to tyrosine (TAC) and subsequently microinjected into proneclei of fertilized eggs from Cybbtm1Din knockout mice. The resulting transgenic mice were back-crossed to the knockout strain. The mutation models the immuno- deficiency of human CGD (chronic granulomatous disease) patients. Western blot analysis showed that transgenic mice on knockout background express mutated (underglycosylated) gp91phox from the transgene.
  • mutations:
  • Insertion
  • synonyms:
  • Cybb<C1024T>,
  • Cybb<C1024T>
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1 Feature

Genome

1 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories