ENU诱变产生了在第1391位由丝氨酸替换为酪氨酸的氨基酸替换(A到C点突变),这导致了PLSD-T型的平滑骨发育不全患者中的一种突变(源于文献J:260538)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JJcl
Chemically induced
单点
显性
1
36
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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