在第13号外显子插入了IRES-neomycin抗性 cassette后,引入了Tyr508Phe的点突变。对骨髓巨噬细胞的Northern blot分析显示,纯合突变小鼠中检测到了剪接异常的转录本。免疫印迹分析则在这些纯合突变小鼠的骨髓巨噬细胞中发现了蛋白质水平的降低。(来源:J:72269)

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
1
8

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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