设计了一个靶向载体,用于插入导致T89M(类似于SLOS患者中的人类T93M)的核苷酸替换,并在第4外显子产生FspI限制性酶切位点的沉默多态性。在5-7号外显子周围插入了LoxP位点,而在第4内含子的LoxP位点上游插入了一个带有5'LoxP的neo。来源:(J:106758)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
--
1
2
4

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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