这个等位基因在6号和12号外显子之间缺失了17,814个bp。RT-PCR结果显示,7到11号外显子的cDNA缺失。这些突变体中未检测到成熟蛋白质。(来源:J:106692, J:108213)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
基因内删除
--
1
2
26

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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