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Spontaneous Allele Detail
Symbol: Plp1jp-msd
Name: proteolipid protein (myelin) 1; myelin synthesis deficiency
MGI ID: MGI:1856066
Synonyms: msd
Gene: Plp1  Location: ChrX:136822671-136839733 bp, + strand  Genetic Position: ChrX, 59.1 cM, cytoband F1-F2
Strain of Origin:  B10.C-H7b/(47N)Sn
Allele Type:    Spontaneous
Mutation:    Single point mutation
    Sequencing the entire coding region of this allele showed a a single C to T transition in exon 6. (J:5322, J:42980)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Plp1 Mutation:  15 strains or lines available
Plp1jp-msd, myelin synthesis deficiency, recessive. This mutation, which arose spontaneously in the B10.C(47N) strain, was shown to be an allele of Plp1jp by mating a fertile male Plp1jp/Y -- +/- chimera to a Plp1jp-msd/+ female to produce Plp1jp/Plp1jp-msd females with the typical jimpy phenotype (J:5322). Hemizygous males resemble Plp1jp/Y males in behavior, early death, and other aspects (J:5170). They have a deficiency of myelin in the central nervous system, but the myelination defect is less severe than in jimpy males (J:7157). Myelin of the peripheral nervous system is normal (J:6648, J:5688). A single nucleotide substitution in exon 6 causes the myelin synthesis deficiency phenotype (J:42980).

Original:  J:5170 Meier H, et al., A neurological mutation (msd) of the mouse causing a deficiency of myelin synthesis. Exp Brain Res. 1970 Jun 25;10(5):512-25
All:  20 reference(s)

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