Linked Life Data

12787313

Source:http://linkedlifedata.com/resource/pubmed/id/12787313

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2003-6-5
pubmed:abstractText
We describe a novel genetic variant mouse that exhibited ataxia and male sterility, named the AMS mouse. It arose in autoimmune-prone MRL/lpr strain and putative ams mutation showed an autosomal recessive inheritance pattern. Clinical symptoms were first discernible at approximately 21 days of age and consisting of subtle sway of the trunk followed by failure to maintain still posture and appearance of abnormal walk, but no further worsening was noted with advancement of age. The abnormal motor coordination was ascribed to almost complete loss of Purkinje cells of the cerebellum. The cell loss in the Purkinje cell layer began before onset of ataxia and rapidly progressed towards near-complete loss by 6 weeks of age. Another symptom was male sterility due to severe oligozoospermia associated with cellular degeneration during spermatic differentiation in the seminiferous tubules. Thus, the effects of the genetic variation were apparent in two different organs after the development of their basic histological structures, and degeneration and loss of particular cell types in these two tissues produced overt clinical symptoms. Genetic pleiotropism, provided that the nature of genetic variation is of a single gene mutation, is discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1320-5463
pubmed:author
pubmed:issnType
Print
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
382-9
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Ataxia and male sterility (AMS) mouse. A new genetic variant exhibiting degeneration and loss of cerebellar Purkinje cells and spermatic cells.
pubmed:affiliation
The Second Department of Pathology and Department of Urology, Shimane Medical University, Izumo, Japan. tharada@shimane-med.ac.jp
pubmed:publicationType
Journal Article