Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

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 Generation Definitions

Description
Mice homozygous for the waltzer Jackson spontaneous mutation (Cdh23^v-J) exhibit the circling, head-tossing, deafness, and hyperactivity typical of circling mutants. Homozygous mutant mice are very similar to other waltzer mutants (Cdh23^v and Cdh23^v-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 (Cdh23^v/+ Myo7a^sh1/+) 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 Cdh23^v-J homozygotes, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.

Related Strains

Strains carrying   H2-K^bm1 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-K^bm1     (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
002552	B6(V)-Cdh23v-2J/J
002756	B6.CAST-Cdh23Ahl+/Kjn
010615	B6.CBACa-Cdh23CBA/CaJ/Kjn
004502	B6;AKR-Lxl2/GrsrJ
001026	BALB/cByJ
000653	BUB/BnJ
005494	C3.129S1(B6)-Grm1rcw/J
000664	C57BL/6J
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
010614	CBACa.B6-Cdh23ahl/Kjn
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     (48 strains)

Strains carrying other alleles of H2-K

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
006877	B6.Cg-Ldlrtm1Her Tg(H2-K-AKR1B1)1Tj/J
003240	B6;B10.A-H2a-Tg(H2KmPCC)2939Stoe/J
003221	BALB/cAnBr-Tg(H2KePCC)2403Stoe/J
011005	C57BL/6-Tg(H2-Kb-Tcra,-Tcrb)P25Ktk/J
002598	C57BL/6-Tg(KLK4mHEL)6Ccg/J
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     (12 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

Usher Syndrome, Type ID; USH1D - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Cdh23^v-J/Cdh23^v-J

        B6.C-H2-K^bm1/ByJ

• behavior/neurological phenotype
• ataxia   (MGI Ref ID J:29159)
• head tossing
  • vertical head tossing   (MGI Ref ID J:29159)
• novel environmental response-related retropulsion
  • mice shuffle backwards when placed on a smooth surface   (MGI Ref ID J:29159)
• hearing/vestibular/ear phenotype
• abnormal otolith morphology
  • deficiencies in both utricular and saccular otoliths   (MGI Ref ID J:29159)
• absent brainstem auditory evoked potential
  • mice are deaf   (MGI Ref ID J:29159)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Immunology and Inflammation Research
CD Antigens, Antigen Receptors, and Histocompatibility Markers

Cdh23^v-J related

Developmental Biology Research
Defects in Cell Adhesion Molecules

Mouse/Human Gene Homologs
Usher syndrome, type ID
      USH1D
deafness, autosomal recessive 12 (DFNB12)

Neurobiology Research
Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)

Sensorineural Research
Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)

Genes & Alleles

Gene & Allele Information provided by MGI

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; CDHR23; 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] [MGI Ref ID J:164061] [MGI Ref ID J:35731]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Bolz H; von Brederlow B; Ramirez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; Cabrera Md; Vila MC; Molina OP; Kubisch C; Gal A. 2001. Mutation of CDH23, encoding a new member of the cadherin gene family, causes usher syndrome type 1D Nat Genet 27(1):108-12. [PubMed: 11138009]  [MGI Ref ID J:66740]

Cdh23^v-J related

Di 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]

Manji SS; Miller KA; Williams LH; Andreasen L; Siboe M; Rose E; Bahlo M; Kuiper M; Dahl HH. 2011. An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice. Am J Pathol 179(2):903-14. [PubMed: 21689626]  [MGI Ref ID J:174130]

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]

H2-K^bm1 related

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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]

Wang H; Wu X; Wang Y; Oldenborg PA; Yang YG. 2010. CD47 is required for suppression of allograft rejection by donor-specific transfusion. J Immunol 184(7):3401-7. [PubMed: 20208011]  [MGI Ref ID J:160062]

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Zhan Y; Bourges D; Dromey JA; Harrison LC; Lew AM. 2007. The origin of thymic CD4+CD25+ regulatory T cells and their co-stimulatory requirements are determined after elimination of recirculating peripheral CD4+ cells. Int Immunol 19(4):455-63. [PubMed: 17314081]  [MGI Ref ID J:119986]

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

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• Genomic DNA is available for this strain from the Mouse DNA Resource.

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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The Jackson Laboratory's Genotype Promise

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.

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JAX^® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.