ENU诱变在18号染色体的第4,333,965位碱基(位置v38)或NC_000084基因组区域的第19,517位引起了转换,从C变为T。这个变异对应于NM_008713 mRNA序列中第1,250位的氨基酸,位于8个总外显子中的第7个外显子。该变异导致了第376位氨基酸(Protein的R376)由赖氨酸变为 cysteine。(参考文献:J:224668)

Basic Information

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

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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