Strain Name: |
BUB/BnJ |
|---|---|
Stock Number: |
000653 |
Availability: | Repository- Live |
General Terms and Conditions |
| Former Name |
BUB/BnJ-Pde6brd1 (Changed: 19-MAR-08
) |
| Genes & Alleles | Cdh23; Cdh23ahl; Pde6b; Pde6brd1; |
Product Information
Strain Details
Type Inbred Strain Additional information on Inbred Strains. Mating System Sibling x Sibling (Female x Male) Species laboratory mouse H2 Haplotype q2 (see, Fischer Lindahl K 1997 and Shen FW 1982) Generation F198 (11-DEC-07) Appearance
albino
Related Genotype: a/a Tyrc/TyrcImportant Note
This strain is homozygous for Cdh23ahl and Pde6brd1. The ahl mutation accounts for progressive hearing loss (complete deafness by 2-3 months). See article "Genetic Background Effects: Can Your Mice See?", JAX Notes Spring 2002, No. 485.Strain Description
BUB/BnJ mice carry a specific T cell receptor V beta mutation, making this strain highly susceptible to collagen-induced arthritis. This T cell receptor V beta restriction works in concert with other uncharacterized modifying genes present in BUB/BnJ mice. BUB/BnJ mice carry no detectable endogenous ecotropic MuLV DNA sequences. Mice are also reported to have high serum complement activity. In response to challenge, BUB/BnJ mice develop immune-mediated nephritis characterized by proteinuria, glomerulonephritis and tubulointerstitial disease (Xie et al., 2004).BUB/BnJ mice are homozygous for the Mass1frings allele (monogenic, audiogenic seizure susceptibility 1) and are susceptible to audiogenic seizures prior to 25 days of age (Skradski, et al 2001). In addition, the Mass1frings allele acounts for early onset hearing impairment by 3-4 weeks of age (Johnson KR, et al 2005).
Strain Development
The BUB/BnJ inbred strain originated from randomly bred albino mice of unknown ancestry. Inbreeding was begun in 1945 by JW Wilson at Brown University. This strain was transferred to S Bernstein at The Jackson Laboratory at F46 and then to the production facility in 1968 at generation F68. Current generation of inbreeding is F166+.
Gene & Allele Details
| Allele Symbol | Cdh23ahl | ||
|---|---|---|---|
| Allele Name | age related hearing loss 1 | ||
| Common Name(s) | Cdh23753A; mdfw; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | Cdh23, cadherin 23 (otocadherin) | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | 4930542A03Rik; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; RIKEN cDNA 4930542A03 gene; USH1D; W; age related hearing loss 1; ahl; bob; bobby; bus; bustling; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf181; nmf252; v; waltzer; | ||
| Molecular Note | Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has identified an association between ahl and a G to A transition at nucleotide position 753 of Cdh23. This hypomorphic allele causes in frame skipping of exon 7 and reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129/ScJ, NOR/LtJ, A/J, C57BL/6, NOD/LyJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: C3H/HeSnJ, I/LnJ,YBR/Ei, MRL/MpJ. [J:86905] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
| Gene Symbol and Name | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide | ||
| Chromosome | 5 | ||
| Gene Common Name(s) | CSNB3; PDEB; Pdeb; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; rd; rd-1; rd1; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10; | ||
| General Note |
Pde6brd1, retinal degeneration 1, recessive. Formerly r, rd, rd1. A mutation causing retinal degeneration described by Bruckner (J:25576) and by Tansley (J:15333) in various stocks was later found to be present in many inbred strains (J:114). Keeler (J:5007) thought it to be identical with the rodless retina mutation he had described in 1924 (J:24999); the identity has recently been proven by analyses of DNA from Keeler's original slides (J:15231). Homozygotes are fully viable and fertile.Eyes develop normally up to 7 to 10 days after birth. At this stage the outer segment of the rod cell has begun to form, and in wild type mice it elongates rapidly during the 10th to 15th days. In Pde6brd1/Pde6brd1 mice the nascent outer segments and the rod cells degenerate rapidly so that by 15 days there is only a thin layer of rod cells left, and they have disappeared completely by 35 days (J:5250, J:5708). The inner nuclear layer and the retinal ganglion cells appear normal butmay show slight quantitative reduction (J:5812, J:5292). Although the eyes of Pde6brd1 homozygotes are devoid of normal rods, the mice have some visual capacity (J:5980). About 3% of cones among the visual cells degenerate at a much slower rate than do rods, so that a few cones are still present at 18 months (J:5988). The surviving cones are postulated (J:25157) as the light receptors required for the persistence of circadian responses to dawn and dusk in Pde6brd1 homozygotes past the sstage when rods have disappeared (J:29236). In fusion chimeras between wild type and Pde6brd1 homozygous embryos, the Pde6brd1 mutant acts in the photoreceptor cells rather than in the pigment epithelium of the retina (J:5708). Action within photoreceptor cells is also implied by the long term survival of wild type rod cells transplanted into Pde6brd1 homozygote retinas (J:20769). At a stage before degeneration can be seen, a deficiency of cGMP-PDE, andan excess of cGMP, appears in rod photoreceptor cells (J:5332). The rate of retinal degeneration in mutants doubly homozygous for two retinal degeneration mutations (Pde6brd1 and RdsRd2) is intermediate between those of the two homozygotes (J:12044). The double homozygote shows an intermediate level of mRNAs for the ß subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6brd1 and RdsRd2 (J:2579). Genbank ID for mutant sequence: M75166 | ||
| Molecular Note | Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C to A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain has also been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. [J:11513] [J:4366] [J:51361] | ||
Colony Maintenance
| Diet Information | LabDiet® 5K52/5K67 |
|---|
Related Strains
Strains carrying Cdh23ahl allele
001137 129P1/ReJ 000690 129P3/J 002065 129T2/SvEmsJ 000691 129X1/SvJ 000646 A/J 000647 A/WySnJ 003070 ALR/LtJ 003072 ALS/LtJ 004502 B6;AKR-Lxl2/J 001026 BALB/cByJ 005494 C3.129S1(B6)-Grm1rcw/J 000664 C57BL/6J 004764 C57BL/6J-Cdh23v-8J/J 003129 C57BL/6J-Epha4rb-2J/J 004820 C57BL/6J-Kcne12J/J 004703 C57BL/6J-Nmf134/J 004811 C57BL/6J-nmf110/J 004812 C57BL/6J-nmf111/J 004747 C57BL/6J-nmf118/J 004656 C57BL/6J-nmf88/J 004391 C57BL/6J-Chr 13A/J/NaJ 004385 C57BL/6J-Chr 7A/J/NaJ 000662 C57BLKS/J 000667 C57BR/cdJ 000668 C57L/J 000669 C58/J 000657 CE/J 000670 DBA/1J 001140 DBA/1LacJ 000671 DBA/2J 007048 DBA/2J-Gpnmb+/SjJ 002106 KK/HlJ 000675 LG/J 000676 LP/J 000677 MA/MyJ 001976 NOD/ShiLtJ 002050 NOR/LtJ 000679 P/J 002747 SENCARB/PtJ 002335 SKH2/J 003392 STOCK Crb1rd8/J View Strains carrying Cdh23ahl (41 strains)
002756 B6.CAST-Cdh23Ahl+/Kjn 002432 B6J x B6.C-H2bm1/ByJ-Cdh23v-J/J 002552 C57BL/6J-Cdh23v-2J/J 004764 C57BL/6J-Cdh23v-8J/J 004819 C57BL/6J-Cdh23v-9J/J 005016 CByJ;B6-Cdh23v-10J/J 000275 V/LeJ
004297 B6.CXB1-Pde6brd10/J 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Phenotypic Data
Mouse Phenome Database
Festing Inbred Strain Characteristics: BUB
Additional Web Information
Genetic Quality Control Annual Report
JAX Notes, April 1988; 433. H-2 Haplotypes of Mice from Jackson Laboratory Production Colonies.
JAX Notes, Spring 2002; 485. Genetic Background Effects: Can Your Mice See?
Animal Health Reports
Room Number AX11
Research Applications
This mouse can be used to support research in many areas including:
Cdh23ahl relatedImmunology and Inflammation Research
Inflammation (collagen induced arthritis)
Neurobiology Research
Epilepsy (audiogenic seizures)
Vestibular and Hearing Defects (Age related hearing loss)
Research Tools
Cancer Research (no detectable endogenous ecotropic MuLV DNA Sequences)
Sensorineural Research
Retinal Degeneration (Homozygous for Pde6brd1)
Vestibular and Hearing Defects (Age related hearing loss)
Pde6brd1 relatedNeurobiology Research
Vestibular and Hearing Defects (Age related hearing loss)
Sensorineural Research
Vestibular and Hearing Defects (Age related hearing loss)
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
References
Selected Reference(s)
Additional ReferencesFischer Lindahl K. 1997. On naming H2 haplotypes: functional significance of MHC class Ib alleles. Immunogenetics 46(1):53-62. [PubMed: 9148789] [J:41130]
Shen FW; Chorney MJ; Boyse EA. 1982. Further polymorphism of the Tla locus defined by monoclonal TL antibodies. Immunogenetics 15(6):573-8. [PubMed: 7106865] [J:6828]
Price and Supply Information
| Strain Name: | BUB/BnJ |
| Stock Number: | 000653 |
Price Details
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Supply Details
| Standard Supply | Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. |
|---|---|
| Supply Notes |
This strain is available from some international Charles River Laboratories (CRL) breeding facilities in Japan and/or Europe. For more information, see the Worldwide Distributor List for JAX® Mice. Usually shipped between four and six weeks of age. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource. |
| Licensing | See General Terms and Conditions below |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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