STRAIN INFORMATION |
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Family Identifier |
NMF137 | |
Synonym(s) |
Pde6bnmf137; Pde6b2J; C57BL/6J-Pde6b2J/J; JR#4766 | |
Synopsis |
Mottled retina, white retinal vessels. | |
Gene Symbol |
Pde6b (View MGI Record) | |
Gene |
Phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide | |
Allele Symbol |
Pde6bnmf137 (View MGI Record) | |
Allele |
neuroscience mutagenesis facility137 | |
Abnormal Assay(s) |
Assay: Indirect ophthalmoscopy Domain(s): Eye/Vision Assay: Electroretinogram (ERG) Domain(s): Eye/Vision Assay: Eye histology Domain(s): Eye/Vision |
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Phenotype Description |
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; JR#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 NMF137xC3He/J were affected. Sequencing results further showed that this mutation corresponds to a point mutation on exon 16. Electroretinogram recordings revealed that homozygotes have no rod or cone responses at eight weeks, while heterozygotes test normal. | |
Pathology Report |
The mutants showed extensive and pogressive degeneration of the outer nuclear layer of the retina, which appears to be less severe than the degeneration observed in rd1 mutants. | |
| HERITABILITY AND MAPPING INFORMATION |
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Background Strain |
C57BL/6J | |
Heritability Mode |
Recessive | |
Heritability Status |
Proven; 2 heterozygote matings produced 6 affected mice in a total of 20 progeny. | |
Chromosome |
5 | |
Molecular Interval |
cM 57.0 | |
Map |
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| STATUS INFORMATION |
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Mutant Status |
Cryopreserved Embryos | |
Comments |
Please note: The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org. (21) NMF137 have been requested by and distributed to 4 investigators. | |
Contact e-Mail Address |
nmf-mice@jax.org | |