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中文
在第4079位的A到C突变发生在第38个外显子，导致了Leucine被Proline替换，位置在氨基酸1360，这个变异被称为p.Leu1360Pro。在第38个内含子中插入了loxP引导的诺卡因抗性基因座，然后通过Cre介导的重组移除。这个突变类似于人类的c.4022T>C（p.Leu1341Pro）变异，它关联着LGMD2B。对四头肌的Western blot分析显示了蛋白质水平显著降低。（来源：J:302056）
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
