这个描述的变异发生在9号染色体的enu诱导的T到A替换,位置是71,858,929 base pair (v38)或者基因组NC_000075的252,891位点。在mRNA序列NM_011544的第17个外显子中,这个变异对应于第1,759位的氨基酸,导致了Valine(Val)被Aspartic Acid(Asp)替换,即V498D的变化。参考文献为J:267666。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
半显性
1
5
--

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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