在染色体14的v38位置,由ENU诱导的T到C的转换,基因座为63,384,002或NC_000080的GenBank基因区域的第33,186个碱基。这个变异对应NM_007549 mRNA序列的第5个外显子的第697位氨基酸,导致丝氨酸(S)变为脯氨酸(P),即S93P的变化。(引用:J:255004)

Basic Information

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