Mbp^shi-mld
Spontaneous Allele Detail

Summary

• Symbol: Mbp^shi-mld
• Name: myelin basic protein; myelin deficient
• MGI ID: MGI:1856160
• Gene: Mbp Location: Chr18:82493271-82603762 bp, + strand Genetic Position: Chr18, 55.84 cM, cytoband E2-E4
• Alliance: Mbp^shi-mld page

Mutation origin

• Strain of Origin: MDB/Dt

Mutation description

• Allele Type: Spontaneous
• Mutations: Duplication, Inversion
• Mbp^shi-mld involves 1 genes/genome features (Mbp) View all
• Mutation details: This mutation comprises a tandem duplication and inversion of Mbp. Recombination points indicate that the duplication and inversion event was the result of nonhomologous recombination. Antisense RNA produced by the duplicated gene complexes with sense RNA reducing Mpb expression. (J:8798, J:10952)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mbp Mutation: 30 strains or lines available

Notes

The Mbp^shi-mld mutation arose spontaneously in the MDB/Dt strain at Purdue University (J:5917). Two stocks of Mbp^shi-mld-bearing mice, both derived from the Purdue original stock at about the same time, and maintained respectively in Worcester, Massachusetts, and in Lausanne, Switzerland, show quantitative differences in life span, in incidence of convulsions, in MBP at older ages, and in proportion of optic axons myelinated. The differences are attributed to differences in regulatory genes in the two stocks, maintained on quite different backgrounds (J:27485). The effects of the Mbp^shi-mld mutation are less severe than those of Mbpshi. MBP is present in the CNS, though low in quantity, and the myelin deficient phenotype is rendered normal by an Mbp transgene (J:6320). Mbp^shi/Mbp^shi-mld heterozygotes are deficient in CNS myelin to a greater extent than Mbp^shi-mld/Mbp^shi-mld homozygotes, but less than Mbp^shi/Mbp^shi homozygotes (J:27481). Mbpshi-mld mice have normal lipid/protein ratios, lipid distribution patterns, and only moderate abnormalities of fatty acid profiles (J:27484), whereas these elements are strongly abnormal in Mbpshi (J:6012). Mbpshi caused more severe deficits in learning performance than Mbpshi-mld, while neither affected natural behavior (J:27482).

References

• Original: J:5917 Doolittle DP, et al., Myelin deficient, a new neurological mutant in the mouse. J Hered. 1977 Sep-Oct;68(5):331-2
• All: 27 reference(s)