About   Help   FAQ
Plp1jp-msd
Spontaneous Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  B10.C-H7b/(47N)Sn
Mutation
description
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
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
Find Mice (IMSR)
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:  14 strains or lines available
Notes
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).

References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/23/2014
MGI 5.19
The Jackson Laboratory