Article

Reproductive and neurological Quaking(viable) phenotypes in a severe combined immune deficient mouse background.

Veterinary Molecular Biology, Montana State University, Molecular Biosciences Building, 960 Technology Boulevard, Bozeman, MT 59718, USA.
Immunogenetics (impact factor: 2.93). 06/2005; 57(3-4):226-31. DOI:10.1007/s00251-005-0792-4 pp.226-31
Source: PubMed

ABSTRACT The quaking(viable) (qkv) mutation, a spontaneous deletion of a multigenic region encompassing roughly 1 Mb at 5.9 cM on the proximal end of mouse chromosome 17, causes severe trembling in all homozygous animals and infertility in all homozygous males. Physiologically, quaking mice exhibit dysmyelination and postmeiotic spermatogenic arrest. Molecular defects in Qkv mice occur in the affected tissues, indicating the primary causes of these pathologies are cell autonomous. However, because both the reproductive and neurological defects are in immune-privileged sites and because some similar pathologies at both sites have been shown to be immune mediated, we tested whether the immune system participates secondarily in manifestation of Qkv phenotypes. The qkv mutation was bred into a severe combined immune-deficient mouse line (SCID; devoid of mature B and T cells) and penetrance of the neurological and the male sterile phenotypes was measured. Results showed that neither defect was ameliorated in the immune-deficient background. We conclude that the Qkv pathologies do not likely involve a B- or T-cell-dependent response against these immune-privileged sites.

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Keywords

causes severe
 
homozygous animals
 
homozygous males
 
immune system participates secondarily
 
immune-deficient mouse line
 
immune-privileged sites
 
male sterile phenotypes
 
mature B
 
Molecular defects
 
mouse chromosome 17
 
multigenic region encompassing
 
neurological defects
 
postmeiotic spermatogenic arrest
 
qkv mutation
 
Qkv pathologies
 
Qkv phenotypes
 
quaking mice exhibit dysmyelination
 
spontaneous deletion
 
T cells
 
T-cell-dependent response