RBF/DnJ

Stock number: 000726
Strain synonyms: POSF
Research areas: Endocrine Deficiency Research, Metabolism Research, Neurobiology Research, Research Tools, Sensorineural Research

Description

Mice of this strain are homozygous for Robertsonian translocations Rb(1.3)1Bnr, Rb(8.12)5Bnr and Rb(9.14)6Bnr. These mice are useful for production of antibody producing hybridomas.

Detailed description

The RBF inbred strain arose from crosses with wild mice, originally known as "tobacco mouse", captured in Valle di Poschiavo in S.E. Switzerland. The wild mice originally known as 'tobacco mouse' because of the coat colour. The strain was transferred to Dr. M. Davisson (Dn) in 1981 and subsequently to the production colony of The Jackson Laborotory (J). Mice are homozygous for Robertsonian translocation Rb(1.3)1Bnr, Rb(8.12)5Bnr and Rb(9.14)6Bnr.

Development

RBF stands for Robertsonian (RB) POSF. POSF was a subline of M. m. domesticus poschiavinus wild derived stock, which had several Robertsonian translocations. Alfred Gropp mated feral male from the Seiss Poschiavo Valley to a Swiss strain and F1 hybrids were received by Tom Roderick at The Jackson Laboratory where the colony was subsequently transferred to Davisson. In September 1983 this strain reached generation F53.

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

Symbol: Ahr^d
Name: d variant
MGI accession ID: MGI:2667196
Generation method: Not Applicable
Synonyms: ah; Ah^d; Ah^k; Ahhⁿ; AhRd; in
Marker symbol: Ahr
Marker name: aryl-hydrocarbon receptor
Marker synonyms: Ah; Ahh; Ahre; bHLHe76; dioxin receptor; In; RP85
Chromosome: 12
Strain of origin: Not Applicable
Molecular note: This allele encodes a 104 kDa receptor that is stabilized by molybdate and has an affinity for ligand 10-100 fold lower than that of the receptor produced by the C57BL/6J allele. PCR sequencing of cDNA revealed ten nucleotide differences between the coding sequences of the DBA/2J and C57BL/6J receptors. Five of the ten differences would cause amino acid changes. One of these, an apparent T to C transition replaces the opal termination codon in the C57BL/6J allele with an arginine codon in the DBA/2J allele. This change would extend translation of the DBA/2J mRNA by 43 amino acids, accounting for the larger size of the peptide produced by this allele (104 kDa vs 95 kDa for the C57BL/6J allele). A second T to C transition changes a leucine codon in the C57BL/6J allele to a proline codon in the DBA/2J allele, and would likely change secondary structure of the peptide and thus ligand affinity.
General note:

Strain of origin - this allele was found in DBA/2J, AKR/J, 129, SWR, RF, NZB strains

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: Cdh23^ahl
Name: age related hearing loss 1
MGI accession ID: MGI:3028349
Generation method: Spontaneous
Synonyms: Cdh23^753A; mdfw
Marker symbol: Cdh23
Marker name: cadherin 23 (otocadherin)
Marker synonyms: 4930542A03Rik; ahl; bob; CDHR23; mdfw; nmf112; nmf181; nmf252; PITA5; sals; USH1D
Chromosome: 10
Strain of origin: multiple strains
Molecular note: Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870). This hypomorphic allele changes splice donor site G-GT to A-GT, causing frame skipping of exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.

Allele

MGI accession ID: MGI:103993
Marker symbol: Rb(8.12)5Bnr
Marker name: Robertsonian translocation, Chr 8 and 12, Universitat Bonn/Rhein 5
Marker synonyms: Rb5Bnr
Chromosome: 12

Allele

MGI accession ID: MGI:104029
Marker symbol: Rb(9.14)6Bnr
Marker name: Robertsonian translocation, Chr 9 and 14, Universitat Bonn/Rhein 6
Marker synonyms: Rb6Bnr
Chromosome: 14

Allele

MGI accession ID: MGI:103615
Marker symbol: Rb(1.3)1Bnr
Marker name: Robertsonian translocation, Chr 1 and 3, Universitat Bonn/Rhein 1
Marker synonyms: Rb1Bnr
Chromosome: 1