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The transgenic construct contains a mutant form of the mouse peripheral myelin protein zero (Mpz) gene in which a 97 bp fragment of a human MPZ cDNA, extending from the second nucleotide of exon 6 and encompassing the "P0ins" insertion associated with Dejerine-Sottas syndrome (DSS), has replaced the corresponding region of the mouse gene. The mutation comprises the insertion of CG between nucleotides 662 and 663, in exon 6, that causes a frameshift following amino acid 221 (Ala221fs). (J:82809)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
