This strain may be homozygous for Gnat2cpfl3, cone photoreceptor function loss 3, which affects bright light (photopic) vision.
PN/nBSwUmabJ mice develop a predominantly female lupus-like syndrome with age (Walker et al., 1978). Characteristics of the systemic lupus erythemoatosus syndrome include: abnormalities in B and T cell function, hypergammaglobulinemia, antibody production against multiple autoantigens, severe systemic perivasculitis and vasculitis, and immune complex-mediated glomerulonephritis (Walker et al.,1978, Luzina et al., 1999, Davidson et al., 1982, Handwerger et al.,1999). Perivascular and vascular infiltrates are composed of unusual phenotypic markers characteristic of both T and B cells (Luzina et al, 1999). By three months of age 88-100% of mice have IgG autoantibodies (Handwerger et al., 1999). Death usually occurs earlier in females as a result of glomerulonephritis and arteritis. The disease progression is accelerated in the female offspring of NZB and PN F1 crosses (Walker et al., 1986). PN/nBSwUmabJ mice develop hearing loss and otic capsule sclerosis demonstrating some parallels to human cochlear autoimmune osteogenesis (Khan et al., 2000).
The inbred strain, PN/nBSwUmabJ, was developed from albino pet shop mice in1948 at Palmerston North Hospital in New Zealand. Wigley began to inbreed the colony in 1964, selecting for positive ANA (anti-nuclear antibody) in the first three generations. The primary breeding line was named PN/nA. At F9 a subline was created named PN/nB. Both lines exhibited similar characteristics of autoimmune disease (Walker et al 1978). The nA line was discarded in 1975. The nB colony was transferred to Walker (Sw) at the University of Michigan in the 1980's and then to Handwerger at the University of Maryland (Umab). The Jackson Laboratory imported the strain in 2004.
|Allele Name||cone photoreceptor function loss 3|
|Allele Synonym(s)||no cones|
|Gene Symbol and Name||Gnat2, guanine nucleotide binding protein, alpha transducing 2|
|Strain of Origin||various|
|General Note||This allele has been detected in the following strains either by genotyping or complementation testing: ALS/LtJ, SENCARA/PtJ, SENCARB/PtJ, SENCARC/PtJ, PN/nBSwUmabJ. (J:122428) The allele has also been reported in NMRI and CD1 (Lluis Montoliu, J:212307)|
|Molecular Note||A single nucleotide substitution of G to A at coding nucleotide 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine (p.D200N).|
When using the PN/nBSwUmabJ mouse strain in a publication, please include JAX stock #005052 in your Materials and Methods section.