在exon 11引入了一个点突变,移除了558位的valine,同时通过同源重组在intron 9插入了一个floxed neo cassette。接着在exon 14上又引入了一个点突变,将aca替换为ata,导致第669位的isoleucine被threonine取代(T669I)。这些点突变模拟了人类体细胞胃肠道间质瘤(GIST)中观察到的559位valine缺失和T670I氨基酸替换。通过Cre介导的重组,删除了neo cassette。(来源:J:188434)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
27
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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