在8号染色体的v38上,由ENU诱导的A到G的转换发生在11,761,2978号碱基对(基点117,612,978),或者在NC_000074的GenBank基因组区域,对应于Plcg2编码序列的114,704号碱基。这个变异等同于mRNA序列NM_172285中第3,328位的氨基酸,位于第28个外显子的33个总外显子中。该变异导致磷脂酶Cγ2(PLC-2)蛋白中第1,043位的甲硫氨酸(M1043V)被缬氨酸替换。(来源:J:272862)

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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