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中文
在7号染色体的v38位置，由ENU诱导的T到C的转换，具体在5,629,5460对碱基(基因组区域NC_000073的55,868处)，或者Oca2的GenBank基因序列中。这个变异对应NM_021879 mRNA序列的第8个外显子的第945位氨基酸。该突变导致OCA2蛋白中第272位的缬氨酸替换为异亮氨酸。(引用:J:264643)
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
