对Plp基因的基因组和转录本(cDNA)进行测序揭示,在编码第115位的核苷酸上有一个G变T的单个碱基突变,导致阿尔法39位由丝氨酸取代为苏氨酸(等位基因为p.Ala39Ser)。Northern分析显示,与+/Y纯合野生型小鼠相比,Plpjp-4J/Y杂合子的PLP mRNA减少了90%(文献来源:J:41569)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeJ
Spontaneous
单点
隐性
1
7
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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