These mice carry an ENU-induced mutation and exhibit deep anterior chambers, lens extrusion cataracts, and angle dysgenesis.
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 eye examination at 12 weeks of age revealed deep anterior chambers, lens extrusion cataracts, and angle dysgenesis in NMF166 mutants (n=29 eyes examined). Standard pathology work-up on two mutants (84 or 90 days of age) revealed bilateral cataracts and retinal rosettes. Atrophic testes and a lack of sperm (sperm apoptosis in the epididymis) were also noted. Male or female mutants have been produced, although so far males have not mated successfully.
This phenotypic deviant was generated by ethylmethanesulfonate (EMS) mutagenesis in the Neuroscience Mutagenesis facility at The Jackson Laboratory.
|Allele Name||neuroscience mutagenesis facility, 166|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||NMF166; Tdrd7glcr5; Tdrd7grm5|
|Gene Symbol and Name||Tdrd7, tudor domain containing 7|
|Strain of Origin||C57BL/6J|
|Molecular Note||ENU induced a C to T nonsense mutation at position 2187 in the coding region resulting in glutamine to stop mutation at amino acid 723. Western blot analysis did not detect any protein expression in the eyes from homozygous mice indicating this is a null allele.|