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Plp1jp-msd
Spontaneous Allele Detail
Summary
Symbol: Plp1jp-msd
Name: proteolipid protein (myelin) 1; myelin synthesis deficiency
MGI ID: MGI:1856066
Synonyms: msd
Gene: Plp1  Location: ChrX:135723420-135740482 bp, + strand  Genetic Position: ChrX, 59.1 cM, cytoband F1-F2
Alliance: Plp1jp-msd page
Mutation
origin
Strain of Origin:  B10.C-H7b/(47N)Sn
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsSequencing the entire coding region of this allele showed a a single C-to-T transition in exon 6, leading to an alanine to valine substitution at position 242 (p.A242V). (J:5322, J:42980)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:  18 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:  21 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory