A.B6 Tyr⁺-Pde6a^nmf282/J

Stock number: 006026
Strain synonyms: NMF282
Research areas: Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

Mice carrying the ENU-induced Pde6a^nmf282 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.

Detailed description

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.

Development

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

Symbol: Pde6a^nmf282
Name: neuroscience mutagenesis facility, 282
MGI accession ID: MGI:3611307
Generation method: Chemically induced (ENU)
Synonyms: NMF282; nmf-282
Marker symbol: Pde6a
Marker name: phosphodiesterase 6A, cGMP-specific, rod, alpha
Marker synonyms: CGPR-A; Pdea; RP43
Chromosome: 18
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).