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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
基因编辑小鼠
Fcgr2b
del
Alias:
AIH
promoter region deletion haplotype
AIH
autoimmune Fcgr2 promoter haplotype
NZB-type fcgr2b allele
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基础信息
表型特征
文献报道
Fcgr2b基因的启动子在一组易患自身免疫的鼠模型中被发现存在一个13bp的缺失,这个缺失打断了两个可能的转录因子结合位点,一个AP4位点和一个S盒。这些携带这种突变的品种和品系包括NZB、BXSB、SB/Le、MRL、NOD以及129。此外,NZB的247到242位有七个As,而不是NZW的六个或CON的五个(引用文献J:79651)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6147620
multiple strains
Spontaneous
Intragenic deletion, Nucleotide substitutions
--
1
3
3
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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