cocoa鼠的表型背后所涉及的突变被确定为14号内含子至15号外显子的A-T替换,从TAG变为TTG。由于去除了内源性接受位点,15号外显子中出现了一个隐蔽的剪接位点,导致了移框和过早终止。Northern分析显示了野生型和纯合突变动物mRNA在质量和数量上的差异。(来源:J:72606)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/10J
Spontaneous
单点
隐性
1
4
14

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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