在第1外显子12个密码子下游,靠近CUG起始密码子并且在AUG起始密码子上游,引入了一个无意义突变。体外,一个含fluorescein hygro标记的 cassette被剔除了,留下一个在内含子1中非保守区域的单个loxP位点。对同卵突变胎儿肾脏和睾丸组织的 Western blot分析显示,虽然CUG起始的isoforms未检测到,但AUG起始的isoforms正常存在。(来源:J:82515)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Single point
--
1
15
2

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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