在exon 7的AGA密码子被替换为histidine( CAT)的密码子,即R318H,这在人类的ectrodactyly, ectodermal dysplasia, clefting syndrome中等同于R279H突变。此外,插入了neomycin cassette,它被loxP位点前后标记,位于exon 5上游,exon 7下游。通过Cre介导的重组,去除了neomycin cassette以及编码DNA结合区域的exons 5到7,产生了无功能的等位基因。(来源:J:294158)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
插入,基因内删除
--
1
16
1

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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