BXD24/TyJ-Cep290^rd16/J

Stock number: 000031
Product name: rd16
Strain synonyms: retinal degeneration 16
Research areas: Sensorineural Research

Description

The spontaneous mutation, Cep290^rd16 (originally rd16), was discovered in the BXD24 recombinant inbred strain. Mice exhibit complete degeneration of retinal photoreceptors resulting in blindness.

Detailed description

The BXD RI strains are used to study the genetics of behavioral phenotypes including alcohol and drug addiction, stress, and locomotor activity. The BXD set of RI strains also is used in the genetic analysis of numerous complex or potentially complex physiologic phenotypes including differences in organ weight and bone mineral density. The strain distribution pattern (SDP) for BXD RI strains is available through the Mouse Genome Informatics Recombinant Inbred Strain Distribution Patterns.

In 2004, a spontaneous mutation, rd16, was discovered in the BXD24/TyJ recombinant inbred line. Mice exhibit complete degeneration of retinal photoreceptors (Seecharan et al. 2003) resulting in blindness. The strain distribution pattern (SDP) for the BXD RI strains is available through the Mouse Genome Informatics Contributed Data Sets and Gene Network. Additional tools and information are presented through the Mouse Phenome Database Specialized Strain Panel Query Form, and Gene Network.

The Jackson Laboratory live colony was a challenging breeder / very poor breeder. It exhibited a high incidence of non-productive matings and when productive, the litters were small [May 2021]. See our General Husbandry Tips.

Development

The BXD set of RI strains was developed in the laboratory of Benjamin Taylor and was transferred to The Jackson Laboratory from Dr. Taylor's research colony upon his retirement. Of 42 BXD RI strains originally derived from the C57BL/6J (Stock No. 000664) and DBA/2J (Stock No. 000671), a number have become extinct over the years. The other BXD RI strains now being distributed are listed under "Related Recombinant Inbred Strains."

In 2004, a spontaneous mutation, rd16, was discovered in the BXD24/TyJ recombinant inbred strain. At the time, the molecular mutation was not known and the strain was renamed BXD24b to distinguish it from the cryorecovered BXD24a strain (stock# 005243). In 2009, the strain was renamed to reflect the discovery of the genetic basis of the mutation,a deletion of exons 35 to 39. The non-mutant form of this recombinant inbred subline is available as stock #005243.

Allele

Symbol: Cep290^rd16
Name: retinal degeneration 16
MGI accession ID: MGI:3624136
Generation method: Spontaneous
Attributes: Hypomorph
Synonyms: rd16
Marker symbol: Cep290
Marker name: centrosomal protein 290
Marker synonyms: 3H11Ag; b2b1454Clo; b2b1752Clo; BBS14; CT87; JBTS5; Kiaa; LCA10; MGC:7859; MKS4; Nphp6; POC3; rd16; RGD1311640; SLSN6
Chromosome: 10
Strain of origin: BXD24/TyJ
Molecular note: The mutation is a deletion of exons 35 to 39 of the gene. The expressed transcript contains an in-frame deletion of 897 bp, corresponding to amino acids 1599-1897 of the encoded protein, which overlaps with the region of human CEP290 critical for microtubule binding. The truncated protein is detectable in retinal extracts derived from homozygous mice.