| RRC ID |
202
|
| 著者 |
Yoshida M, Harada Y, Kaidzu S, Ohira A, Masuda J, Nabika T.
|
| タイトル |
New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation.
|
| ジャーナル |
Pathol Int
|
| Abstract |
A rat strain with congenital nuclear cataracts has been established. Segregation analyses indicated that this phenotype had an autosomal recessive mode of inheritance, implying that a loss of function mutation of a single autosomal gene was responsible. The gene was mapped to the D15Rat6 locus on chromosome 15 through a linkage analysis using 93 backcrossed rats. The connexin 46 gene (Gja3) was found to be located close to the locus, and was regarded as a strong candidate because of its pivotal role in the lens fiber cells. Expression of the gene in the lens was comparable between the cataract and control rats when evaluated with immunohistochemistry and reverse transcription-polymerase chain reaction. However, a non-conservative missense mutation, Glu42Lys, was found in the gene of the cataract rats, which was likely to be responsible for the pathogenesis. This strain will be useful in pathophysiological studies on nuclear cataracts.
|
| 巻・号 |
55(11)
|
| ページ |
732-7
|
| 公開日 |
2005-11-1
|
| DOI |
10.1111/j.1440-1827.2005.01896.x
|
| PII |
PIN1896
|
| PMID |
16271086
|
| MeSH |
Amino Acid Sequence
Animals
Cataract / congenital*
Cataract / etiology
Cataract / genetics*
Chromosome Mapping
Connexins / chemistry
Connexins / genetics*
Connexins / physiology
Crosses, Genetic
Disease Models, Animal*
Female
Genetic Linkage
Immunohistochemistry
Lens, Crystalline / chemistry
Lens, Crystalline / pathology
Lens, Crystalline / physiopathology
Male
Molecular Sequence Data
Mutation, Missense
Point Mutation*
Polymerase Chain Reaction
Rats
|
| IF |
2.11
|
| 引用数 |
15
|
|
WOS 分野
|
PATHOLOGY
|
| リソース情報 |
| ラット |
SHRSP.WKY-(D1Mgh5-D1Rat44)/Izm(strainID=444)
SHRSP/Izm(strainID=409)
ACI/NKyo(strainID=6)
BN/SsNSlc(strainID=371)
DON/Kyo(strainID=1)
F344/NSlc(strainID=379)
WTC/Kyo(strainID=18) |
