这种突变是在ENU诱变雄性小鼠G3代中通过其可见表型被发现的。它涉及第六内含子捐赠拼接位点上的一个G到A的转换,紧接在exon之后的一个核苷酸(GGTGAGC变G-ATGAGC)。这种突变很可能破坏拼接位点,导致exon 6的缺失。(来源:J:145522)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
4
--

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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