Plp1^jp-msd
Spontaneous Allele Detail

Summary

• Symbol: Plp1^jp-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: Plp1^jp-msd page

Mutation origin

• Strain of Origin: B10.C-H7^b/(47N)Sn

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Sequencing 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

Disease models

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: 19 strains or lines available

Notes

Plp1^jp-msd, myelin synthesis deficiency, recessive. This mutation, which arose spontaneously in the B10.C(47N) strain, was shown to be an allele of Plp1^jp by mating a fertile male Plp1^jp/Y -- +/- chimera to a Plp1^jp-msd/+ female to produce Plp1^jp/Plp1^jp-msd females with the typical jimpy phenotype (J:5322). Hemizygous males resemble Plp1^jp/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)