在第15外显子的598位点引入了点突变,由编码天冬酰胺(Asparagine,N)变为编码精氨酸(Arginine,R)。这种表达被 intron 18 中的 loxP 介导的诺卡因抗性 cassette 阻断,通过 Cre 酶的去失将激活突变等位基因。(来源:J:75497)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
8
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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