| Primary Identifier | MGI:1856066 | Allele Type | Spontaneous |
| Gene | Plp1 | Inheritance Mode | Recessive |
| Strain of Origin | B10.C-H7<b>/(47N)Sn | Is Recombinase | false |
| Is Wild Type | false |
| description | 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). |
| molecularNote | 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). |
