These mice carry a recessive spontaneous mutation of the Crb1 gene, characterized by retinal dysplasia.
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Routine ophthalmoscopic examination at 8 weeks of age revealed retinal spots predominantly in the inferior medial quadrant of the fundus, similar to those observed in Crb1rd8 mutants. The results of subsequent complementation tests and sequence analyses showed that these mutants represent the same mutation as rd8, an allele of Crb1, although the phenotypic expression observed in NMF144 is milder than that observed in Crb1rd8 mutants. Male or female mutants have been produced; the mice are fertile, and a colony can be maintained through regular breeding.
Standard pathology work-up on two mutants (69 or 109 days of age) showed bilateral retinal dysplasia in the older mutant and unilateral retinal dysplasia in the younger mutant.
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||retinal degeneration 8|
|Allele Synonym(s)||Crb16N; nmf144; Rd8-|
|Gene Symbol and Name||Crb1, crumbs family member 1, photoreceptor morphogenesis associated|
|Strain of Origin||C57BL/6By or C57BL/6N|
|Molecular Note||The mutation in the rd8 mouse has been identified as a single base deletion of a C (G on forward strand) at coding nucleotide 3481 in the gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein after amino acid 1207. This mutation has been found to be present in all sublines of C57BL/6N and in C57BL/6ByJ, but not in any C57BL/6J subline. It occurred sometime between transfer of mice from JAX to NIH, in 1951, and from NIH to Donald Bailey, in 1961.|