ENU诱变在8号染色体的v38位点(117,615,238)产生了一个T到A的转换,或者在NC_000074的GenBank基因组区域,对应于Plcg2编码序列的116,948位。这个变异等同于mRNA序列NM_172285中第3,532位的氨基酸,位于第4个外显子中的33个总外显子中。该变异导致了磷脂酶Cγ2(PLCgamma-2)蛋白中酪氨酸(Trp, W)变为赖氨酸(Arg, R),位置为1113,即W1113R。参考文献:J:218966

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
2
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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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