在9号染色体的v38位置,由ENU诱导的G到A的转换,具体位置是71,858,840对(基因组区域NC_000075的252,980处)。这个变异等同于NM_011544 mRNA序列中第1,848位的氨基酸,位于第17个外显子的内。该突变导致HEB蛋白中第528位的甘氨酸被丝氨酸替换,即G528S。(引用:J:271972)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
其他
1
5
--

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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