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A T>C mutation was generated in exon 9 to change isoleucine codon 296 (ATT) to threonine (ACT) (p.Iso296Thr). This mutation corresponds to the p.I294T mutation found in human X-linked neutropenia patients. (J:279178)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
