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Sequencing of Plp genomic and cDNAs showed a single nucleotide substitution, G-to-T, in exon 2 at coding nucleotide 115 which causes an alanine to serine substitution at position39 (p.Ala39Ser). Northern analysis showed that PLP mRNA was reduced by 90% in Plpjp-4J/Y compared to +/Y wild-type mice. (J:41569)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
