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中文
这种表型突变是在哈沃德的ENU诱变筛选中发现的。在Exon 5的一个单核苷酸变异，一个T到A的转换（位置2:33,566,910在Ensembl Release 74的GRCm38小鼠基因组中），被识别出来，它不存在于参考小鼠序列中，也未在17个额外的鼠品系中找到。这个变异导致编码蛋白的homeodomain区域的 hydrophobic valine被hydrophilic aspartic acid替换（p.V242D）。(来源：J:215517)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
