B6.Cg-Crx^rd23/BocJ

Stock number: 036967
Research areas: Sensorineural Research

Description

This spontaneous mutation provides a model for Leber congenital amaurosis 7 and cone-rod dystrophy 2.

Detailed description

The Crx^rd23 mutation causes retinal degeneration with sclerotic retinal vessels at 4 weeks of age. There is progressive degeneration of the outer nuclear layer and by 4 months of age only one layer of cells remained. Electroretinogram responses were nondetectable in homozygotes at 4 weeks of age compared with heterozygous controls and the electroretinograms were not found to be normal at any time point assessed. This point substitution in the splice site after exon 2 provides a model for Leber congenital amaurosis 7 and cone-rod dystrophy 2.

Development

The Crx^rd23 mutation is a single G to C point substitution in the splicing zone of exon 2, results in the loss of exon 2 and a frameshift that leads to a stop codon at amino acid 202. This mutation arose spontaneously in the strain B6;SJL-Tnfrsf14^tm1.1Kro/J and was identified in April, 2019 in the laboratory of Dr. Bo Chang at The Jackson Laboratory. This mutation was backcrossed onto C57BL/6J and at generation N5 was sibling inbred to homozygosity. Sperm was cryopreserved from homozygous males at generation N5F4.

Allele

Symbol: Crx^rd23
Name: retinal degeneration 23
MGI accession ID: MGI:7640120
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Crx
Marker name: cone-rod homeobox
Marker synonyms: CORD2; CRD; Crx1; LCA7; OTX3
Chromosome: 7
Strain of origin: B6;SJL-Tnfrsf14^tm1.1Kro/J
Molecular note: This spontaneous single G to C point substitution in the splicing zone 5 base pairs after the end of exon 2, at Chr 7:15,605,064 (GRCm39), results in the loss of exon 2 and a frameshift that leads to a stop codon at amino acid 202.