这个13个氨基酸的皮层颗粒定位序列在删除了由第2号外显子编码的前7个aa(52-DKDIPAI-58)和包含PAM序列的区域后被破坏了。由此产生的表达蛋白缺失了52到58号的氨基酸(来源:J:239512)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x DBA/2)F1
Endonuclease-mediated
基因内删除
--
1
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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