这个导致Chy表型的突变是3157位点上的A到T替换,导致酪氨酸激酶域中第1053位的异亮氨酸替换为苯丙氨酸。这个突变发生在受体的高保守催化域,靠近人类原发淋巴水肿中VEGFR-3的变异区域。此外,研究还表明Chy突变等同于该基因中已知的靶向突变。(引用:J:72387)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H
Chemically induced
单点
半显性
1
6
24

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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