STOCK Rb(11.13)4Bnr/J

Stock number: 000729
Research areas: Endocrine Deficiency Research, Sensorineural Research

Description

In June, 2015, this strain was discontinued. For Rb(11.13)4Bnr please refer to Stock No. 012889. Rd3^rd3 can be found in several strains including Stock No. 008627.

This inbred strain bears a Robertsonian translocation, Rb(11.13)4Bnr, and a spontaneous eye mutation, Rd3^rd3, and was derived from the sibling inbreeding of an F1 cross between a female from the outbred NMRI stock and a wild trapped Mus poschiavinus male from Val Poschiavo, Switzerland. It may be useful for studies of retinal degeneration, cancer, reproduction/meiosis, birth defects, aneuploidy generation, other genomic studies or genetic mapping.

Detailed description

This inbred strain bears a Robertsonian translocation, Rb(11.13)4Bnr, and a spontaneous eye mutation, Rd3^rd3, and was derived from the sibling inbreeding of an F1 cross between a female from the outbred NMRI stock and a wild trapped Mus poschiavinus male from Val Poschiavo, Switzerland. It may be useful for studies of retinal degeneration, cancer, reproduction/meiosis, birth defects, aneuploidy generation, other genomic studies or genetic mapping.

Development

Mus poschiavinus is a species of mouse found in Val Poschiavo, Switzerland. Its genome is organized in a karyotype of 26 chromosomes, instead of the usual 40. This includes 7 pairs of metacentrics, 5 pairs of acrocentrics, and the acrocentric X and Y (Cattanach et al., 1972). Due to the tobacco darkening allele (Mc1r^E-tob) in this population, Mus poschiavinus mice have a black coat color that becomes agouti in the flanks after about 8 weeks of age.

In the late 1960s Alfred Gropp bred a Swiss NMRI female to a wild trapped male from Val Poschiavo, Switzerland and sent the F1 offspring to Frank Ruddle at Yale University who shipped these same F1 hybrids to Tom Roderick at The Jackson Laboratory. These F1 hybrids were sibling intercrossed and several inbred lines were generated from inbreeding of this population. These lines were selected for the presence Robertsonian translocations with the intention of generating inbred strains carrying a single Robertsonian or a defined set of Robertsonians. At F3 two lines separated: line PH was inbred to produce a line homozygous for Rb(16.17)7Bnr; and line PI was further separated at generation F4 into lines PAD and PAC. The PAC line was maintained by sibling intercross and the offspring of the F7 sibling intercross were separated into several further sublines, including PJG and PJI, which were each sibling intercrossed for one generation then cousin intercrossed before again being maintained by sibling intercross. In 1977 this line reached generation F17 and was designated subline N and in 1983 it reached generation F32. While this line was selected to be maintained homozygous for Rb(11.13)4Bnr, it had been maintained segregating for Mc1r^E-tob and Tyr^c, but at some point it became fixed homozygous for Tyr^c. In 1990 when this inbred reached generation F73 an attempt was made to cryopreserve embryos but this was not successful. The strain remained on the shelf in the care of Norman Hawes & Bo Chang and they discovered the retinal degeneration 3 mutation (Rd3^rd3) in it. Because this strain was inbred from an outbred population crossed to a wild male it has a unique genomic makeup compared with other inbred strains and even with other inbred strains derived from the same ancestral F1 population.

Allele

Symbol: Mc1r^E-tob
Name: tobacco darkening
MGI accession ID: MGI:1856030
Generation method: Spontaneous
Synonyms: E^tob
Marker symbol: Mc1r
Marker name: melanocortin 1 receptor
Marker synonyms: CMM5; e; extension recessive yellow; Mcr1; MSH-R; Mshra; SHEP2
Chromosome: 8
Strain of origin: M. m. domesticus poschiavinus
Molecular note: Two independent PCR assays found a C-to-T mutation at coding nucleotide 206 resulting in a serine to leucine alteration in codon 69 (p.S69L). A second nucleotide C-to-T change results in a silent mutation at position 166. The result is a receptor that is overactive, though responsive to hormone regulation, and produces a greater activation of the MC1R effector, G protein-coupled adenylyl cyclase, than does the wild-type allele.

Allele

Symbol: Rd3^rd3
Name: retinal degeneration 3
MGI accession ID: MGI:1857014
Generation method: Spontaneous
Marker symbol: Rd3
Marker name: retinal degeneration 3
Marker synonyms: 3322402L07Rik; C1orf36; LCA12; rd3; rd-3
Chromosome: 1
Strain of origin: RBF/DnJ
Molecular note: A C to T substitution in Rd3 results in a stop codon after residue 106. The truncated protein is initially expressed in in vitro assays but is degraded.
General note: This mutation causes retinal degeneration. In homozygous mutant mice, development proceeds normally through the second postnatal week. Thereafter, photoreceptor and outer nuclear layers begin to degenerate, and by 8 weeks, no photoreceptor cells remain. Changes in electroretinograms parallel the histologic changes. As of 1998 this is the only type of retinal degeneration reported in mice in which the photoreceptors are initially normal (J:4367).

Allele

MGI accession ID: MGI:104098
Marker symbol: Rb(11.13)4Bnr
Marker name: Robertsonian translocation, Chr 11 and 13, Universitat Bonn/Rhein 4
Marker synonyms: Rb4Bnr
Chromosome: 11

Allele

MGI accession ID: MGI:104099
Marker symbol: Rb(11.13)4Bnr
Marker name: Robertsonian translocation, Chr 11 and 13, Universitat Bonn/Rhein 4
Marker synonyms: Rb4Bnr
Chromosome: 13