这个基因在exon 1位置通过同源重组插入了耐药性诺卡因 cassette,导致其功能受损。通过对大脑组织进行原位杂交,使用针对该基因的反义RNA探针确认了纯合突变动物中基因表达的缺失。对纯合突变动物的大脑样本进行半乳糖转移酶试验并未检测到酶活性。(来源:J:36558)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
插入
--
1
--
7

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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