Mice carrying the ENU-induced Pde6anmf282 mutation show retinal defects.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
Routine ophthalmoscopic examination at 12 weeks of age revealed retinal spots in mutant eyes. Standard pathology work-up on two mutants (214 or 443 days of age) revealed severe retinal degeneration; vacuolation of the brain was also noted in the older mouse. Male or female mutants have been identified and the colony is maintained through heterozygote matings.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.
|Allele Name||neuroscience mutagenesis facility, 282|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||NMF282; nmf-282|
|Gene Symbol and Name||Pde6a, phosphodiesterase 6A, cGMP-specific, rod, alpha|
|Strain of Origin||A.B6-Tyr+/J|
|Molecular Note||This phenotypic mutation was identified in an ENU mutagenesis screen. The molecular mutation is a single nucleotide G to A missense transition in exon 16, predicted to cause an amino acid change from valine to methionine (V685M).|
When using the A.B6 Tyr+-Pde6anmf282/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #006026 in your Materials and Methods section.