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中文
这项突变通过与原始的 dystrophia muscularis 病变进行补救分析，被证明是 Lama2 基因的一个等位基因。分子缺陷是一个从 T 变为 C 的单一碱基替换，发生在密码子 79 的起始位置，导致 Cys79 转换为 Arg(来源：J:134367)
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
