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EN
ENU-induced A to G transition at base pair 25,051,563 (v38) on chromosome 19, or base pair 52,053 in the GenBank genomic region NC_000085 encoding Dock8. The mutation corresponds to residue 252 in the mRNA sequence NM_028785 within exon 2 of 48 total exons. The mutation results in a threonine to alanine substitution at position 44 (T44A) in the DOCK8 protein. (J:272530)
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
