Tg(Cybb*H338Y)#Sckc
Transgene Detail
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| Symbol: |
Tg(Cybb*H338Y)#Sckc |
| Name: |
transgene insertion, Chi-Chang Shieh |
| MGI ID: |
MGI:6317260 |
| Synonyms: |
CybbC1024T |
| Transgene: |
Tg(Cybb*H338Y)#Sckc Location: unknown
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| Alliance: |
Tg(Cybb*H338Y)#Sckc page
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| Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
| Mutation: |
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Insertion
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Tg(Cybb*H338Y)#Sckc expresses
1 gene
Transgene expresses:
| Organism |
Expressed Gene |
Note |
| mouse |
Cybb (MGI:88574) |
Contains the H338Y mutation found in CGD (chronic granulomatous disease) patients. Transgene inserted into Cybb knockout background (Cybbtm1Din). |
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Mutation details: 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.
(J:276549)
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| 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
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| Original: |
J:276549 Cybbtm1Din>Yen CL, et al., Targeted Delivery of Curcumin Rescues Endoplasmic Reticulum-Retained Mutant NOX2 Protein and Avoids Leukocyte Apoptosis. J Immunol. 2019 Jun 15;202(12):3394-3403 |
| All: |
1 reference(s) |
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Analysis Tools
