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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
