基因编码区域的一个T到G的转换导致了蛋白质第204位的苯丙氨酸变为缬氨酸(p.F204V)。突变蛋白在野生型肾集合管细胞中随机分布,而非集中在集合管细胞的基底侧。来源:(J:105809)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
单点
隐性
1
3
1

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

References Literature

Title
PMID
Journal
Year
IF
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