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中文
这是一项在Rtel1上的点突变，将第492位的甲硫氨酸替换为异亮氨酸。这种突变与人类疾病Hoyeraal-Hreidarsson综合症（HHS）中的RTEL1变异相对应。(来源：J:344245)
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
