在基因1的第3,677,9173个核苷酸(版本v38),由ENU诱导的T到C的转换,或者在GenBank的NC_000067基因组区域的第17,376位。这个变异对应于NM_001289766 mRNA序列中的第1,102位氨基酸(位置Y314)。该变异导致了蛋白质中酪氨酸(T)被替换为histidine(H),即Y314H。(参考文献:J:254832)

Basic Information

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

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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