C57BL/6J-Prph2^Nmf193/J

Stock number: 004821
Product name: NMF193
Research areas: Neurobiology Research, Sensorineural Research

Description

These mice carry an ENU-induced mutation and exhibit potential retinal degeneration.

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 8 weeks of age revealed a mottled retina, indicating potential retinal degeneration in NMF193 mutants.

Male or female mutants have been produced and the colony is maintained through regular breeding. Standard pathology work-up on two mutants (74 days of age) revealed slight, bilateral, pan retinal photoreceptor degeneration of the outer nuclear layer, which consisted of 8 instead of 11 cell layers.

Eye histology on two additional mutants (224 and 432 days of age) showed thinning of the peripheral retina, which was more severe in the older mutant. No other abnormalities were noted.

Allele

Symbol: Prph2^Nmf193
Name: neuroscience mutagenesis facility, 193
MGI accession ID: MGI:3038638
Generation method: Chemically induced (ENU)
Marker symbol: Prph2
Marker name: peripherin 2
Marker synonyms: AOFMD; AVMD; CACD2; DS; MDBS1; Nmf193; PRPH; rd2; Rds; RP7; RSRDS; Tspan22
Chromosome: 17
Strain of origin: C57BL/6J
Molecular note: This phenotypic mutant was identified in an ENU mutagenesis screen. A T-to-A mutation was identified in the exon 1 splice donor site leading to the inappropriate use of a downstream splice donor site. 25 extra nucleotides were included in the mRNA before splicing to the proper splice acceptor site in exon 2. This resulted in a frameshift and the incorporation of 49 missense amino acids before premature truncation of the protein occurred. In homozygote mice, no full-length or truncated protein was detected in retinal extracts. Heterozygote mice had a significant reduction of full-length protein in their retinas compared to wild-type controls.