Wwox<sup>lde</sup> (WW domain-containing oxidoreductase; lde mutant) - Rat Genome Database

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Gene: Wwoxlde (WW domain-containing oxidoreductase; lde mutant) Rattus norvegicus
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Symbol: Wwoxlde
Name: WW domain-containing oxidoreductase; lde mutant
RGD ID: 150429961
Description: This spontaneous lethal dwarfism with epilepsy (LDE) allele carries a 13-bp deletion in exon 9 of rat Wwox gene . This mutation causes a frame shift, resulting in aberrant amino acid sequences at the C-terminal.
ASSOCIATED WITH abnormal gonadotroph morphology; abnormal Leydig cell morphology; audiogenic seizures; ASSOCIATED WITH Dwarfism; epilepsy; Gait Ataxia
Type: allele  of Wwox  
Previously known as: Wwox^[lde]
Is Marker For: Strains:   WIC-Wwoxlde/Fta  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


References

References - curated
# Reference Title Reference Citation
1. Phenotypic characterization of spontaneously mutated rats showing lethal dwarfism and epilepsy. Suzuki H, etal., Comp Med. 2007 Aug;57(4):360-9.
2. A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy. Suzuki H, etal., Genes Brain Behav. 2009 Oct;8(7):650-60. doi: 10.1111/j.1601-183X.2009.00502.x. Epub 2009 May 20.
3. Retarded differentiation of Leydig cells and increased apoptosis of germ cells in the initial round of spermatogenesis of rats with lethal dwarf and epilepsy (lde/lde) phenotypes. Takenaka M, etal., J Androl. 2008 Nov-Dec;29(6):669-78. doi: 10.2164/jandrol.108.005066. Epub 2008 Jul 31.

Genomics


Related Rat Strains
The following Strains have been annotated to Wwoxlde


Expression


Sequence

Nucleotide Sequences


Additional Information