在13号染色体的enu诱导的C到A替换,位置在100,223,014(基因v38)或GenBank序列NC_000079的31,758号碱基,这个变异对应于NM_010870 mRNA序列中第9个外显子的第1,926位氨基酸。该突变导致酪氨酸( Tyr)571被提前终止密码子( Tyr*571)替换。(参考文献:J:234250)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
3
--

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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