ENU诱变在染色体10的12,170号位置,基因NC_000076编码的Ap3d1基因上,产生了由C变为A的转换突变,发生在碱基对80,730,042(v38)。这个变异等同于NM_007460 mRNA序列中第510位的氨基酸,位于第4个外显子中的31个总外显子中。该突变导致了第97位的Alanine(A)被替换为Glutamic Acid(E),即A97E。参考文献:J:203758

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
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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

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PMID
Journal
Year
IF
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