在17号染色体的v38(基对56,271,339)位置,由ENU诱导的T到C的转换,或者在GenBank的NC_000083基因组区域的第5,429位(编码Ticam1基因)。这个变异对应于NM_174989 mRNA序列的第953位氨基酸,位于2个总exons中的第二个exon。该变异导致了第252位氨基酸(Pro252)由异亮氨酸(I)变为苏氨酸(T)的替换。(引用:J:234240)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
显性
1
2
--

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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