在染色体11的v38位置,由ENU诱导的T到C的转换,对应于NC_000077在GenBank的基因组区域的第295,724个碱基,这个位置在Myo1d基因的编码序列中。这个变异对应于mRNA序列NM_177390的第3,148位氨基酸,位于22个总外显子的第22个外显子。该变异导致Myo1d蛋白中第972位的Leucine(L)被替换为Proline(P),即L972P。参考文献:J:267525

Basic Information

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