Overview

Also Known As:waltzer 2 Jackson

These mice carry the spontaneous Cdh23^v-2J mutation and are characterized by circling, head-tossing, deafness, and hyperactivity.

Genetic overview

Genetic Background	Generation

Cdh23^v-2J

Allele Type	Gene Symbol	Gene Name
Spontaneous (Hypomorph)	Cdh23	cadherin 23 (otocadherin)

View Genetics

Research Applications

Mouse/Human Gene Homologs
Neurobiology Research
Sensorineural Research
Developmental Biology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for the waltzer 2J spontaneous mutation (Cdh23^v-2J) show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Homozygous mutant mice are very similar to the other waltzer mutants (Cdh23^v and Cdh23^v-J). 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 (v/+ Myo7a^sh1/+) are deaf beginning at 3 to 6 months. Double heterozygotes have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.

Development

The waltzer 2 Jackson mutation arose spontaneously at The Jackson Laboratory in 1995 in the B6.V-Lep^ob/J strain (stock #000632) when that congenic was at generation N18. This mutation was bred away from the obese-bearing strain by 2 cycles of backcross-intercross mating of ovarian transplanted hosts bred to C57BL/6J. The colony was then maintained by sibling intercrossing heterozygotes to homozygotes for 17 generations before backcrossing a homozygous male to a C57BL/6J female to genetically refresh to the inbred background. The strain was then maintained by sibling intercross for 3 generations before again backcrossing a homozygous male to C57BL/6J and has been maintained by sibling intercross of heterozygous females with homozygous males since then.

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Cdh23^v-2J

Allele Symbol: Cdh23^v-2J

Allele Name	waltzer 2 Jackson
Allele Type	Spontaneous (Hypomorph)
Allele Synonym(s)	Cdh23^v-2J
Gene Symbol and Name	Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	10
Molecular Note	A G-to-A transition at the first nucleotide of intron 32 alters the wild-type donor splice site. RT-PCR analysis demonstrated that multiple aberrant transcripts were produced from this allele which introduce premature stop codons. However, a small amount of normally processed transcripts (about 4% of total) are expressed.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Usher syndrome type 1D

Research Areas By Phenotype

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

Genotype: Cdh23^v-2J related

Mouse/Human Gene Homologs
- deafness, autosomal recessive 12 (DFNB12)
- Usher syndrome, type ID
  - USH1D
Neurobiology Research
- Hearing Defects
  - deafness, nonsyndromic autosomal recessive 12 (DFNB12)
- Vestibular Defects
Sensorineural Research
- Hearing Defects
  - deafness, nonsyndromic autosomal recessive 12 (DFNB12)
- Vestibular Defects
Developmental Biology Research
- Defects in Cell Adhesion Molecules

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Cdh23^v-2J/Cdh23⁺
mixed

behavior/neurological phenotype

absent pinna reflex
- percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 30% at 3 to 5 month

hearing/vestibular/ear phenotype

increased susceptibility to age-related hearing loss
- percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 30% at 3 to 5 month

The following phenotype relates to a compound genotype created using this strain

Genotype: Cdh23^v-2J/Cdh23^v-2J
B6(V)-Cdh23/J

behavior/neurological phenotype

circling

abnormal reflex
- abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior

impaired swimming
- mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface

hearing/vestibular/ear phenotype

abnormal outer hair cell stereociliary bundle morphology
- E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
- stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
- at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern
- at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly

abnormal cochlear hair bundle tip links morphology
- apical links are not present in P5 mice

abnormal inner hair cell kinocilium morphology
- kinocilia are often dissassociated from the stereociliary clumps

decreased outer hair cell stereocilia number
- in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

abnormal ear morphology

abnormal inner hair cell stereociliary bundle morphology
- E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
- stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
- at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape
- at P4, IHCs remain disorganized

abnormal cochlear hair cell inter-stereocilial links morphology
- lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal cochlear outer hair cell morphology
- at E18.5, the outer hair cells (OHCs) appear immature

increased or absent threshold for auditory brainstem response
- mice at 3-4 weeks of age do not return normal waveforms at a sound pressure level of 100 dB

abnormal ear physiology

abnormal orientation of cochlear hair cell stereociliary bundles
- the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice
- kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice

absent outer hair cell stereocilia
- in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

abnormal outer hair cell kinocilium morphology
- kinocilia are often dissassocaited from the stereociliary clumps

absent linear vestibular evoked potential
- VESPs are absent at the maximum stimulus intensity used

abnormal vestibular hair cell stereociliary bundle morphology
- at P4, stereocilia appear thick and are often fused and disorganized

mammalian phenotype

vision/eye phenotype
- mice do not exhibit signs of retinal degeneration up to 12 months of age and the melanosomes of the retinal pigment epithelium (RPE) are properly localized

cellular phenotype

abnormal inner hair cell kinocilium morphology
- kinocilia are often dissassociated from the stereociliary clumps

abnormal outer hair cell kinocilium morphology
- kinocilia are often dissassocaited from the stereociliary clumps

nervous system phenotype

abnormal inner hair cell stereociliary bundle morphology
- stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
- E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
- at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape
- at P4, IHCs remain disorganized

abnormal outer hair cell stereociliary bundle morphology
- stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
- at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly
- E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
- at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern

abnormal cochlear hair cell inter-stereocilial links morphology
- lateral links that connect stereocilia to each other are sparse and frequently disrupted

abnormal cochlear outer hair cell morphology
- at E18.5, the outer hair cells (OHCs) appear immature

abnormal cochlear hair bundle tip links morphology
- apical links are not present in P5 mice

abnormal inner hair cell kinocilium morphology
- kinocilia are often dissassociated from the stereociliary clumps

abnormal orientation of cochlear hair cell stereociliary bundles
- kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
- the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice

abnormal vestibular hair cell stereociliary bundle morphology
- at P4, stereocilia appear thick and are often fused and disorganized

abnormal outer hair cell kinocilium morphology
- kinocilia are often dissassocaited from the stereociliary clumps

absent outer hair cell stereocilia
- in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

decreased outer hair cell stereocilia number
- in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

vision/eye phenotype

abnormal eye electrophysiology

decreased a-wave implicit time
- electroretinography analysis of mutant retinas show no difference in amplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points

decreased b-wave implicit time
- electroretinography analysis of mutant retinas show no difference in amplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points

Genotype: Cdh23^v-2J/Cdh23^v-2J
involves: C57BL/6J

hearing/vestibular/ear phenotype

abnormal cochlear hair cell physiology
- no FM1-43 loading

nervous system phenotype

abnormal cochlear hair cell physiology
- no FM1-43 loading

Genotype: Cdh23^v-2J/Cdh23⁺
B6(V)-Cdh23/J

hearing/vestibular/ear phenotype

increased or absent threshold for auditory brainstem response
- for some frequencies in mice at 8-10 months of age

References

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):108-12PubMed: 11138009 MGI: J:66740
Wada T; Wakabayashi Y; Takahashi S; Ushiki T; Kikkawa Y; Yonekawa H; Kominami R. 2001. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem Biophys Res Commun 283(1):113-7PubMed: 11322776 MGI: J:69028

Additional - Cdh23^v-2J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Sanger sequencing:Cdh23
- Genotyping resources and troubleshooting
Appearance
- black, circling
  Related Genotype: a/a Cdh23^v-2J/Cdh23^v-2J
  
  black, unaffected
  Related Genotype: a/a Cdh23^v-2J/+
Citation
When using the waltzer 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #002552 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Heterozygous or Wild-type for Cdh23<v-2J>

Payment Terms and Conditions

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.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:waltzer 2 Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Cdh23v-2J

Allele Symbol: Cdh23v-2J

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Cdh23v-2J related

Mammalian Phenotype Terms by Genotype

Genotype: Cdh23v-2J/Cdh23+mixed

behavior/neurological phenotype

hearing/vestibular/ear phenotype

Genotype: Cdh23v-2J/Cdh23v-2JB6(V)-Cdh23/J

behavior/neurological phenotype

hearing/vestibular/ear phenotype

mammalian phenotype

cellular phenotype

nervous system phenotype

vision/eye phenotype

Genotype: Cdh23v-2J/Cdh23v-2Jinvolves: C57BL/6J

hearing/vestibular/ear phenotype

nervous system phenotype

Genotype: Cdh23v-2J/Cdh23+B6(V)-Cdh23/J

hearing/vestibular/ear phenotype

References

Additional References

Additional - Cdh23v-2J related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Cdh23^v-2J

Allele Symbol: Cdh23^v-2J

Genotype: Cdh23^v-2J related

Genotype: Cdh23^v-2J/Cdh23⁺
mixed

Genotype: Cdh23^v-2J/Cdh23^v-2J
B6(V)-Cdh23/J

Genotype: Cdh23^v-2J/Cdh23^v-2J
involves: C57BL/6J

Genotype: Cdh23^v-2J/Cdh23⁺
B6(V)-Cdh23/J

Additional - Cdh23^v-2J related