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Mbpshi-mld
Spontaneous Allele Detail
Nomenclature
Symbol: Mbpshi-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
Mutation
origin
Strain of Origin:  MDB/Dt
Mutation
description
Allele Type:    Spontaneous
Mutations:    Duplication, Inversion
  Mbpshi-mld involves 1 genes/genome features (Mbp) View all
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  25 strains or lines available
Notes
The Mbpshi-mld mutation arose spontaneously in the MDB/Dt strain at Purdue University (J:5917). Two stocks of Mbpshi-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 Mbpshi-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). Mbpshi/Mbpshi-mld heterozygotes are deficient in CNS myelin to a greater extent than Mbpshi-mld/Mbpshi-mld homozygotes, but less than Mbpshi/Mbpshi 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)

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
11/16/2021
MGI 6.17
The Jackson Laboratory