在5号染色体的v38位置,由ENU诱导的A到T的转换,具体位置是140,913,309 base pair,或者在GenBank的NC_000071基因组区域的87,288位。这个变异对应NM_175362 mRNA序列中的第430位氨基酸,位于第3个外显子,总共有25个外显子。这个突变导致CARMA1蛋白中第37位的异亮氨酸变为苯丙氨酸(I37F)。(引用:J:274762)

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
7
--

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部