在exon 31的5995位点,C到T的突变导致Arg2110变为Trp,这是通过同源重组在31号外显子和32号内含子之间插入了一个floxed neo cassette。随后,通过Cre介导的重组移除了neo cassette。P1a蛋白在杂合子和纯合子小鼠的初级角质细胞提取物中的表达降低。(来源:J:179812)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Single point
--
1
14
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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