在染色体11的第34,262,388位(A-G)或NC_000077基因组区域的第521,522位(根据GenBank),由ENU诱导的突变。这个变异对应于NM_178666 mRNA序列中第3,834位的氨基酸,位于第37个外显子中的52个总外显子中。突变导致DOCK2蛋白中第1,251位的赖氨酸(K1251)被替换为arginine(arginine替换为K1251R)。(来源:J:272437)

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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