RGD Reference Report - Myelin deficiency (md): a neurologic mutant in the Wistar rat. - Rat Genome Database

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Myelin deficiency (md): a neurologic mutant in the Wistar rat.

Authors: Csiza, CK  De Lahunta, A 
Citation: Csiza CK and de Lahunta A, Am J Pathol 1979 Apr;95(1):215-23.
RGD ID: 1358782
Pubmed: PMID:434110   (View Abstract at PubMed)
PMCID: PMC2042295   (View Article at PubMed Central)

Myelin deficiency (md), a newly discovered neurologic mutation in the Wistar rat, is transmitted by an X-linked, recessive lethal gene. Male rats are affected, and the first symptom is a head tremor recognizable at 12 to 15 days of age. The tremors become generalized within a few days and disappear when the animal is at rest. In the later stages, from 17 to 21 days of age, the slightest disturbance will precipitate a generalized seizure. Pups die within 30 days after birth. The only gross postmortem change is a gray color of the spinal cord instead of its normally white appearance. Microscopic findings reveal total lack of myelin formation at all levels of the central nervous system.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
demyelinating disease MODEL: spontaneousIAGP 1358782sexual dimorphism and malesRGD 
visual epilepsy  ISOPlp1 (Rattus norvegicus)1358782; 1358782 RGD 
visual epilepsy  IAGP 1358782; 1358782 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
demyelination  IAGP 1358782 RGD 
neurodegeneration  IAGP 1358782 RGD 
premature death  IAGP 1358782 RGD 
seizures  IAGP 1358782 RGD 
tremors  IAGP 1358782; 1358782 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Plp1  (proteolipid protein 1)

Genes (Mus musculus)
Plp1  (proteolipid protein (myelin) 1)

Genes (Homo sapiens)
PLP1  (proteolipid protein 1)

W-Plp1md/Nya  (W-Plp1md)

Additional Information