B6;129-Crb1^rd8/J

Stock number: 004852
Product name: retinal degeneration 8
Research areas: Cell Biology Research, Developmental Biology Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

These mice carry a recessive spontaneous mutation of the Crb1 gene, characterized by retinal dysplasia.

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.

Detailed description

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 Crb1^rd8 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 Crb1^rd8 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.

Development

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

Symbol: Crb1^rd8
Name: retinal degeneration 8
MGI accession ID: MGI:2676366
Generation method: Spontaneous
Marker symbol: Crb1
Marker name: crumbs family member 1, photoreceptor morphogenesis associated
Chromosome: 1
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.