The retinal degeneration phenotype observed in these mice represents a new allele of Pde6b that might be useful for studying neurobiological mechanisms related to retinitis pigmentosa. Homozygotes show extensive and progressive degeneration of the outer nuclear layer of retina and have no rod or cone responses at eight weeks.Read More +
Ophthalmoscopic examination showed a mottled retina, indicative of retinal degeneration, and white retinal vessels initially observed at 24 days of age (n=3). A complementation test between NMF137 and C3H/HeJ (RD1; Stock Number 000659) revealed that the retinal degeneration phenotype observed in NMF137 represents a new allele of Pde6b that is different from rd1, and might be useful for studying neurobiological mechanisms related to retinitis pigmentosa. All 14 progeny resulting from two homozygote matings of NMF137 x C3He/J were
affected. Electroretinogram recordings revealed that homozygotes have no rod or cone responses at eight weeks, while heterozygotes test normally. The mutants showed extensive and progressive degeneration of the outer nuclear layer of the retina, which appears to be less severe than the degeneration observed in rd1 mutants.
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. Sequencing results further showed that this mutation corresponds to a point mutation on exon 16.
|Allele Name||retinal degeneration 1, 2 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||neuroscience mutagenesis facility, 137; NMF137; Pde6b2J; Pde6bnmf137|
|Gene Symbol and Name||Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Strain of Origin||C57BL/6J|
|Molecular Note||This mutation was shown by genetic complementation analysis to be an allele of Pde6b. Molecular sequence analysis showed that this mutation corresponds to a point mutation in exon 16.|
When using the C57BL/6J-Pde6brd1-2J/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004766 in your Materials and Methods section.