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The transgene contains the 17-kb human gene fragment with approximately 4.8 kb of 5' and 6.2 kb of 3' flanking sequences, in which a single base substitution was introduced to produce the amino acid substitution of threonine to methionine at position 17 (p.Thr17Met). Line 5 was generated. (J:200547)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
