将新霉素抗性基因 cassette 通过同源重组插入到 intron 1,并在 exon 1 的第 233 位引入了一个 arg 至 glut 的替换(R233Q)。对纯合突变动物脑组织的 Western blot 显示了蛋白质表达的存在,酶学测定显示其对磷脂和 syntaxin 的结合能力与野生型相当,但钙离子亲和力降低了 2 倍。(来源:J:76452)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
2
5

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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