这种自发的A替换为G的变化,伴随在12号外显子的一个单个碱基(A)缺失,导致了一个移位和在第540位的早停密码子,产生了一个框移突变。(来源:J:274099)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BLKS/J-Npc1spm/J
Spontaneous
Intragenic deletion, Nucleotide substitutions
隐性
1
3
--

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
No Data Found!
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