在基因1的13,807,1249号碱基(版本v38)或NC_000067的GenBank基因组区域的104,508号位置,由ENU诱导发生了T到A的转换。这个变异对应于NM_001111316 mRNA序列中第3,101位的氨基酸,位于33个总外显子的第29个外显子。突变的碱基用红色标出。这种变异导致PTPRC蛋白的第1,021位的甲硫氨酸(M1021K)被替换为赖氨酸。(参考文献:J:265143)

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
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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