RBJ/DnJ

Stock number: 000807
Research areas: Endocrine Deficiency Research, Sensorineural Research

Detailed description

This inbred strain is derived from a mixture of strains and carries the Rb2Lub, Rb3Bnr, Rb4Bnr, and Rb7Bnr Robertsonian Chromosomes.

Development

Origin: Muriel Davisson 1984 from crosses between 1) a stock derived from an "Orobie" male captured near Bergamo, N. Italy x a 129/- female (note that the Orobie stock was developed with crosses involving C57BL/6J, DBA/2J and AEJ/Gn) and 2) the inbred strain RBD. Homozygous for Rb(2.8)2Lub, Rb(5.15)3Bnr, Rb(11.13)4Bnr, Rb(16.17)7Bnr and has a Y chromosome from the Orobie wild population. Embryos of the strain were cryopreserved in 1993 at F32.

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: 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: Hprt1^tm7Detl
Name: targeted mutation 7, Peter J Detloff
MGI accession ID: MGI:2668522
Generation method: Targeted
Attributes: Not Applicable
Synonyms: hprt^NosignalQ38
Marker symbol: Hprt1
Marker name: hypoxanthine phosphoribosyltransferase 1
Marker synonyms: HGPRT; Hgprtase; Hprt
Chromosome: X
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Molecular note: Exon 3 was disrupted by the insertion of a cassette containing a myc tag, and 38 CAG repeats encoding 38 glutamine residues. Neither a nuclear localization signal (NLS) nor a nuclear export signal (NES) was included in the targeting construct.

Allele

MGI accession ID: MGI:103849
Marker symbol: Rb(5.15)3Bnr
Marker name: Robertsonian translocation, Chr 5 and 15, Universitat Bonn/Rhein 3
Marker synonyms: Rb3Bnr
Chromosome: 15

Allele

MGI accession ID: MGI:103678
Marker symbol: Rb(2.8)2Lub
Marker name: Robertsonian translocation, Chr 2 and 8, Lubeck 2
Marker synonyms: Rb2Lub
Chromosome: 2

Allele

MGI accession ID: MGI:104200
Marker symbol: Rb(16.17)7Bnr
Marker name: Robertsonian translocation, Chr 16 and 17, Universitat Bonn/Rhein 7
Marker synonyms: Rb7Bnr
Chromosome: 16