从exon 1的polyglutamine扩展区上游18bp开始,到内含子1的100bp位置,这段序列被替换为含有140个CAG重复的人类HTT序列。在exon 1前方1.3kb处,一个含有一段可删除的neo cassette被去除了。重复次数不固定,可能会扩张或收缩。(来源:J:85298)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
插入
--
1
4
14

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

References Literature

Title
PMID
Journal
Year
IF
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