Log In|Sign Up
中文
在exon 2上游插入了loxP位点。exon 3被替换为一个经过C到G的转换，周围带有FRT和loxP座的neo cassette。通过Flp介导的重组移除了neo cassette。点突变将第163位的丝氨酸替换为赖氨酸(S163R)。这个突变对应于与晚发型视网膜黄斑变性(L-ORD)相关的人类变异。(来源：J:171089)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
