这种突变被识别为一个插入的转基因,它还删除了插入位置大约150kb的基因组序列。这个删除影响了Fancl的4-14号外显子,以及临近的Vrk2基因的2-11号外显子。转基因包含山羊DNA片段。将表达Vrk2的转基因导入纯合小鼠中并未能复现这种表型,这表明Fancl的缺失是导致这些小鼠表现出的表型的唯一原因。(来源:J:80424)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(CBA/J x C57BL/6J)F2
--
Insertion, Intergenic deletion
隐性
1
5
5

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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