在染色体11的v38位置,由ENU诱导的G到A的转换,具体在34,256,562号碱基对,或者在GenBank的NC_000077基因组区域的527,348号位置。这个变异对应NM_178666 mRNA序列中的第4,115位氨基酸,位于第40个外显子中的52个总外显子内。该变异导致DOCK2蛋白中第1,345位的甘氨酸被替换为arginine,即G1345R变异。(参考文献:J:272438)

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
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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