在染色体14的v38位置,由ENU诱导的C到T的转换,发生在碱基对50,950,923处,或者在NC_000080的GenBank基因组区域的第6,621位。这个变异对应于mRNA序列NM_013632中第5个外显子的第833位氨基酸。该突变导致PNP蛋白中arginine(185)被替换为一个早终止密码子(R185*)。(来源:J:265147)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
2
--

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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