在信号肽后面,外显子1被替换为一个带有27bp重复(ALLLLCALL的9个氨基酸重复)的外显子1,接着是一个被flp介导的重组去除的诺卡因 cassette。这种重复已经在早期家族性 Pagets 骨病患者中被发现。(来源:J:312215)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
插入
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1
7
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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