These mice carry an ENU-induced mutation that is characterized by photoreceptor 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.Read More +
Routine ophthalmoscopic examination revealed mutants with retinal spots or mottled retina. Histology performed on a single eye surgically removed from a mutant at 186 days of age, revealed severe photoreceptor degeneration. Male mutants do not breed well, and the colony is maintained through heterozygote matings.
Histology performed on a single eye surgically removed from a mutant at 186 days of age, revealed severe photoreceptor degeneration.
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 Name||neuroscience mutagenesis facility, 192|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Nphp4, nephronophthisis 4 (juvenile) homolog (human)|
|Strain of Origin||C57BL/6J|
|Molecular Note||ENU induced a T to A transversion that results in the amino acid substitution of a stop codon for leucine at position 104 (L104X).|
Because homozygous males are not fertile, this strain is maintained using heterozgyous males bred with homozgyous females.
When using the C57BL/6J-Nphp4nmf192/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #005008 in your Materials and Methods section.