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Former Names B6J x B6.C-H2bm1/ByJ-Cdh23v-J/J (Changed: 24-APR-09 ) Type Coisogenic; Congenic; Major Histocompatibility Congenic; Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation +N1 Description
Mice homozygous for the waltzer Jackson spontaneous mutation (Cdh23v-J) exhibit the circling, head-tossing, deafness, and hyperactivity typical of circling mutants. Homozygous mutant mice are very similar to other waltzer mutants (Cdh23v and Cdh23v-2J). Most homozygotes are deaf from birth. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (Cdh23v/+ Myo7ash1/+) become deaf by 3 to 6 months of age. Double heterozygotes show degeneration in the organ of Corti, stria vascularis, and spiral ganglion similar to that of Cdh23v-J homozygotes, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.
Strains carrying H2-Kbm1 allele
000368 B6.C-H2-Kbm1/By 006559 B6.C-H2-Kbm1/ByBir-Gusbmps/BrkJ 000256 B6.C-H2-Kbm1/ByBir-Gusbmps/J 001060 B6.C-H2-Kbm1/ByJ 006558 B6.Cg-H2-Kbm1 Tg(GUSB)4Sly/SndsJ View Strains carrying H2-Kbm1 (5 strains)
Strains carrying other alleles of Cdh23
001137 129P1/ReJ 000690 129P3/J 000691 129X1/SvJ 000646 A/J 000647 A/WySnJ 003070 ALR/LtJ 003072 ALS/LtJ 002756 B6.CAST-Cdh23Ahl+/Kjn 004502 B6;AKR-Lxl2/GrsrJ 001026 BALB/cByJ 000653 BUB/BnJ 005494 C3.129S1(B6)-Grm1rcw/J 000664 C57BL/6J 002552 C57BL/6J-Cdh23v-2J/J 004764 C57BL/6J-Cdh23v-8J/J 004819 C57BL/6J-Cdh23v-9J/J 003129 C57BL/6J-Epha4rb-2J/GrsrJ 004820 C57BL/6J-Kcne12J/J 004703 C57BL/6J-Kcnq2Nmf134/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 005016 CByJ;B6-Cdh23v-10J/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 000275 V/LeJ View Strains carrying other alleles of Cdh23 (46 strains)
Strains carrying other alleles of H2-K
006877 B6.Cg-Ldlrtm1Her Tg(H2-K-AKR1B1)1Tj/J 002598 C57BL/6-Tg(KLK4mHEL)6Ccg/J 008337 CBA/Ca-Tg(H2-K-HLA-G,B2M)1Alm/CmwJ 004258 NOD.B6-Tg(KLK4mHEL)6Ccg/Dvs 005853 NOD.Cg-Tg(HLA-A2/H2-K)1Scr/ShrmJ View Strains carrying other alleles of H2-K (5 strains)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Cdh23v-J/Cdh23+
B6.C-H2-Kbm1/ByJ
- no phenotypic analysis
- *normal* no phenotypic analysis (MGI Ref ID J:73941)
- no phenotypic data is available
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Cdh23v-J relatedImmunology and Inflammation Research
CD Antigens, Antigen Receptors, and Histocompatibility Markers
Developmental Biology Research
Defects in Cell Adhesion Molecules
Mouse/Human Gene Homologs
Usher syndrome, type ID
USH1D
deafness, autosomal recessive 12 (DFNB12)
Neurobiology Research
Vestibular and Hearing Defects
deafness, nonsyndromic autosomal recessive 12 (DFNB12)
Sensorineural Research
Vestibular and Hearing Defects
deafness, nonsyndromic autosomal recessive 12 (DFNB12)
| Allele Symbol | Cdh23v-J | ||
|---|---|---|---|
| Allele Name | waltzer Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Bob; bobby; nm1971; | ||
| Strain of Origin | B6.C-H2-Kbm1/ByJ | ||
| 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; sals; salsa; v; waltzer; | ||
| Molecular Note | A single G residue at position 3560 was deleted in this allele. This mutation is predicted to cause a translational frame shift and premature termination of the encoded protein. [MGI Ref ID J:69985] [MGI Ref ID J:73941] | ||
| Allele Symbol | H2-Kbm1 | ||
| Allele Name | b haplotype mutation 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | H(z1); H-2ba; H-2bm1; Kbm1; bm1; | ||
| Strain of Origin | BALB/cBy | ||
| Gene Symbol and Name | H2-K, histocompatibility 2, K region | ||
| Chromosome | 17 | ||
| General Note | Genbank ID for this allele: X56624 | ||
| Molecular Note | The bm1 mutation contains 7 nucleotide differences resulting in amino acid substitutions at codon 152 (glutamate to alanine), codon 155 (arginine to tyrosine) and codon 156 (leucine to tyrosine). [MGI Ref ID J:109263] [MGI Ref ID J:109268] [MGI Ref ID J:109270] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
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Cdh23v-J relatedH2-Kbm1 relatedDi Palma F; Pellegrino R; Noben-Trauth K. 2001. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Gene 281(1-2):31-41. [PubMed: 11750125] [MGI Ref ID J:73941]
Lutz CM; Cook S; Bronson RT; Erway L; Frankel WN. 1995. Remutation at the waltzer locus Mouse Genome 93(3):862. [MGI Ref ID J:29159]
Wilson SM; Householder DB; Coppola V; Tessarollo L; Fritzsch B; Lee EC; Goss D; Carlson GA; Copeland NG; Jenkins NA. 2001. Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice. Genomics 74(2):228-33. [PubMed: 11386759] [MGI Ref ID J:69985]
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Bolinger B; Krebs P; Tian Y; Engeler D; Scandella E; Miller S; Palmer DC; Restifo NP; Clavien PA; Ludewig B. 2008. Immunologic ignorance of vascular endothelial cells expressing minor histocompatibility antigen. Blood 111(9):4588-95. [PubMed: 18195091] [MGI Ref ID J:134363]
Brown GR; Thiele DL. 2000. Enhancement of MHC class I-stimulated alloresponses by TNF/TNF receptor (TNFR)1 interactions and of MHC class II-stimulated alloresponses by TNF/TNFR2 interactions Eur J Immunol 30(10):2900-7. [PubMed: 11069072] [MGI Ref ID J:65234]
Brown RE; Schellinck HM; Jagosh J. 1998. Behavioural studies of MHC-congenic mice. Genetica 104(3):249-57. [PubMed: 10386391] [MGI Ref ID J:55290]
Carroll LS; Penn DJ; Potts WK. 2002. Discrimination of MHC-derived odors by untrained mice is consistent with divergence in peptide-binding region residues. Proc Natl Acad Sci U S A 99(4):2187-92. [PubMed: 11842193] [MGI Ref ID J:74764]
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Erlebacher A; Vencato D; Price KA; Zhang D; Glimcher LH. 2007. Constraints in antigen presentation severely restrict T cell recognition of the allogeneic fetus. J Clin Invest 117(5):1399-411. [PubMed: 17446933] [MGI Ref ID J:122071]
Ford MS; Zhang ZX; Chen W; Zhang L. 2006. Double-negative T regulatory cells can develop outside the thymus and do not mature from CD8+ T cell precursors. J Immunol 177(5):2803-9. [PubMed: 16920915] [MGI Ref ID J:139556]
Graubert TA; DiPersio JF; Russell JH; Ley TJ. 1997. Perforin/granzyme-dependent and independent mechanisms are both important for the development of graft-versus-host disease after murine bone marrow transplantation. J Clin Invest 100(4):904-11. [PubMed: 9259590] [MGI Ref ID J:42355]
Hammer GE; Gonzalez F; James E; Nolla H; Shastri N. 2007. In the absence of aminopeptidase ERAAP, MHC class I molecules present many unstable and highly immunogenic peptides. Nat Immunol 8(1):101-8. [PubMed: 17128277] [MGI Ref ID J:116606]
Hofling AA; Vogler C; Creer MH; Sands MS. 2003. Engraftment of human CD34+ cells leads to widespread distribution of donor-derived cells and correction of tissue pathology in a novel murine xenotransplantation model of lysosomal storage disease. Blood 101(5):2054-63. [PubMed: 12406886] [MGI Ref ID J:109848]
Hogquist KA; Jameson SC; Heath WR; Howard JL; Bevan MJ; Carbone FR. 1994. T cell receptor antagonist peptides induce positive selection. Cell 76(1):17-27. [PubMed: 8287475] [MGI Ref ID J:92867]
Huygen K; Drowart A; Harboe M; ten Berg R; Cogniaux J; Van Vooren JP. 1993. Influence of genes from the major histocompatibility complex on the antibody repertoire against culture filtrate antigens in mice infected with live Mycobacterium bovis BCG. Infect Immun 61(6):2687-93. [PubMed: 8500908] [MGI Ref ID J:13022]
Kassiotis G; Garcia S; Simpson E; Stockinger B. 2002. Impairment of immunological memory in the absence of MHC despite survival of memory T cells. Nat Immunol 3(3):244-50. [PubMed: 11836529] [MGI Ref ID J:151747]
Kievits F; Lokhorst W; Ivanyi P. 1990. Abnormal anti-viral immune response in mice is corrected in HLA-B27.2-transgenic mice. Eur J Immunol 20(5):1189-92. [PubMed: 1694133] [MGI Ref ID J:128764]
Kirberg J; Bosco N; Deloulme JC; Ceredig R; Agenes F. 2008. Peripheral T lymphocytes recirculating back into the thymus can mediate thymocyte positive selection. J Immunol 181(2):1207-14. [PubMed: 18606674] [MGI Ref ID J:137464]
Klein J; Figueroa F; David CS. 1983. H-2 haplotypes, genes and antigens: second listing. II. The H-2 complex. Immunogenetics 17(6):553-96. [PubMed: 6407984] [MGI Ref ID J:7097]
Lamouse-Smith E; McCarthy SA. 1997. Allospecific cytotoxic T cells generated from beta 2m-/- mice in primary MLC: analysis of activation requirements, specificity, and phenotype. Cell Immunol 179(2):107-15. [PubMed: 9268494] [MGI Ref ID J:42696]
Le Borgne M; Etchart N; Goubier A; Lira SA; Sirard JC; van Rooijen N; Caux C; Ait-Yahia S; Vicari A; Kaiserlian D; Dubois B. 2006. Dendritic cells rapidly recruited into epithelial tissues via CCR6/CCL20 are responsible for CD8+ T cell crosspriming in vivo. Immunity 24(2):191-201. [PubMed: 16473831] [MGI Ref ID J:113330]
Leibnitz RR; Lipsky PE; Thiele DL. 1995. Protection from T helper cell-mediated graft-versus-host disease by the presence of an MHC class I alloantigen is associated with perturbation of MHC class II-restricted responses by class I-derived peptides. J Immunol 155(4):1784-95. [PubMed: 7636234] [MGI Ref ID J:28656]
Ljunggren HG; Van Kaer L; Sabatine MS; Auchincloss H Jr; Tonegawa S; Ploegh HL. 1995. MHC class I expression and CD8+ T cell development in TAP1/beta 2-microglobulin double mutant mice. Int Immunol 7(6):975-84. [PubMed: 7577806] [MGI Ref ID J:26520]
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Maeda Y; Reddy P; Lowler KP; Liu C; Bishop DK; Ferrara JL. 2005. Critical role of host gammadelta T cells in experimental acute graft-versus-host disease. Blood 106(2):749-55. [PubMed: 15797996] [MGI Ref ID J:107458]
McKenzie IF; Morgan GM; Blanden RV; Melvold R; Kohn H. 1977. Studies of H-2 mutations in C57BL/6 and BALB/c mice. Transplant Proc 9(1):551-3. [PubMed: 68588] [MGI Ref ID J:109278]
Melvold RW; Wang K; Kohn HI. 1997. Histocompatibility gene mutation rates in the mouse: a 25-year review. Immunogenetics 47(1):44-54. [PubMed: 9382920] [MGI Ref ID J:44711]
Miyada CG; Klofelt C; Reyes AA; McLaughlin-Taylor E; Wallace RB. 1985. Evidence that polymorphism in the murine major histocompatibility complex may be generated by the assortment of subgene sequences. Proc Natl Acad Sci U S A 82(9):2890-4. [PubMed: 2581256] [MGI Ref ID J:109270]
Mohiuddin M; Ruggiero V; Shen Z; DiSesa VJ. 1996. T-cell receptor expression in C57BL/6 mice that reject or are rendered tolerant to bm1 cardiac grafts. J Thorac Cardiovasc Surg 112(2):310-3. [PubMed: 8751496] [MGI Ref ID J:35731]
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Ohlemiller KK; Hennig AK; Lett JM; Heidbreder AF; Sands MS. 2002. Inner ear pathology in the mucopolysaccharidosis VII mouse. Hear Res 169(1-2):69-84. [PubMed: 12121741] [MGI Ref ID J:108876]
Pease LR; Schulze DH; Pfaffenbach GM; Nathenson SG. 1983. Spontaneous H-2 mutants provide evidence that a copy mechanism analogous to gene conversion generates polymorphism in the major histocompatibility complex. Proc Natl Acad Sci U S A 80(1):242-6. [PubMed: 6571997] [MGI Ref ID J:109263]
Sancho D; Joffre OP; Keller AM; Rogers NC; Martinez D; Hernanz-Falcon P; Rosewell I; Reis e Sousa C. 2009. Identification of a dendritic cell receptor that couples sensing of necrosis to immunity. Nature 458(7240):899-903. [PubMed: 19219027] [MGI Ref ID J:147472]
Schulze DH; Pease LR; Geier SS; Reyes AA; Sarmiento LA; Wallace RB; Nathenson SG. 1983. Comparison of the cloned H-2Kbm1 variant gene with the H-2Kb gene shows a cluster of seven nucleotide differences. Proc Natl Acad Sci U S A 80(7):2007-11. [PubMed: 6300887] [MGI Ref ID J:109268]
Selvaggi G; Ricordi C; Podack ER; Inverardi L. 1996. The role of the perforin and Fas pathways of cytotoxicity in skin graft rejection. Transplantation 62(12):1912-5. [PubMed: 8990386] [MGI Ref ID J:37400]
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Spielman J; Lee RK; Podack ER. 1998. Perforin/Fas-ligand double deficiency is associated with macrophage expansion and severe pancreatitis. J Immunol 161(12):7063-70. [PubMed: 9862744] [MGI Ref ID J:112121]
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Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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Purchasing Information
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