Overview

Also Known As:waltzer 8 Jackson

These mice carry an ENU-induced mutation characterized by a slight head tilt, circling behavior, and deafness.

The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Genetic overview

Genetic Background	Generation

Cdh23^v-8J

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Cdh23	cadherin 23 (otocadherin)

Cdh23^ahl

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

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Research Applications

Sensorineural Research
Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This C57BL/6J background strain is segregating for the age related hearing loss mutation Cdh23^ahl, which in the homozygous state causes progressive hearing loss with onset after 10 months of age.

Detailed Description

The mutants were initially detected based on abnormal pre-pulse-inhibition test results. They were subsequently observed to exhibit a slight head tilt and circling behavior (onset at approximately 4 weeks of age), and the mutant line was established based on the overt phenotype. Testing of auditory brainstem responses revealed the mutants (n=4) to be deaf. The vestibular abnormality of nmf112 was mapped as a recessive phenotype in 19 affected and 20 unaffected (C57BL/6J-nmf112 x BALB/cByJ) F2 intercross mice, and the best linkage was to D10Mit138 (LOD = 7.0) and D10Mit15 (LOD = 6.1). Because of the map position of this mutation and its phenotypic similarity to the waltzer mutations, a series of complementation tests was performed to determine if allelic relationships exist between NMF112, NMF181, NMF252 and Cdh23. The results showed NMF112 to be an allele of NMF181 (one mating produced 2 mutants in a total of 7 progeny), of NMF252 (one mating produced 2 mutants in a total of 5 progeny) and therefore of Cdh23, since NMF252 has been identified as a new allele of Cdh23. This information suggests therefore that NMF112 mutants might be useful for studying neurobiological mechanisms related to Usher syndrome and human deafness.

Standard pathology work-up on one mutant that died while undergoing ECT testing (94 days of age) showed signs of otitis. The bones of the inner ear had degenerated, possibly due to chronic otitis. Standard pathological work-up and serial sections of ears on two additional mutants (38 days of age) showed no abnormalities.

Development

This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Cdh23^v-8J

Allele Symbol: Cdh23^v-8J

Allele Name	waltzer 8 Jackson
Allele Type	Chemically induced (ENU)
Allele Synonym(s)	neuroscience mutagenesis facility, 112; NMF112; Scn8a^nmf58
Gene Symbol and Name	Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	10
Molecular Note	The mutant nmf112 has a similar phenotype and mapping position to the waltzer mutant. Complementation testing between nmf112 and a known allele at the waltzer locus, Cdh23^nmf252, confirmed the allelic relationship.

Cdh23^ahl

Allele Symbol: Cdh23^ahl

Allele Name	age related hearing loss 1
Allele Type	Spontaneous
Allele Synonym(s)	Cdh23^753A; mdfw
Gene Symbol and Name	Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)
Strain of Origin	multiple strains
Chromosome	10
Molecular Note	Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870). This hypomorphic allele changes splice donor site G-GT to A-GT, causing frame skipping of exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Cdh23^v-8J related

Sensorineural Research
- Hearing Defects
- Vestibular Defects
Neurobiology Research
- Neuroscience Mutagenesis Facility Strain
- Vestibular Defects
- Hearing Defects
  - deafness, nonsyndromic autosomal recessive 12 (DFNB12)

Genotype: Cdh23^ahl related

Neurobiology Research
- Hearing Defects
  - Age related hearing loss
Sensorineural Research
- Hearing Defects
  - Age related hearing loss

Mammalian Phenotype Terms by Genotype

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

Genotype: Cdh23^v-8J/Cdh23^v-8J
C57BL/6J-Cdh23/J

behavior/neurological phenotype

head tilt
- the head tilt in these mice was described as slight and observable at 4 weeks of age

circling
- observable at 4 weeks of age

hearing/vestibular/ear phenotype

abnormal auditory brainstem response

deafness
- auditory brainstem responses (ABR) tests revealed the mutants to be deaf

References

Additional - Cdh23^ahl related

Additional - Cdh23^v-8J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black,circling with head tilt
  Related Genotype: A/A Cdh23^v-8J/Cdh23^v-8J
  
  black, unaffected
  Related Genotype: A/A Cdh23^v-8J/Cdh23^ahl
Citation
When using the waltzer 8 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #004764 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
> >	Unknown for Cdh23<v-8J>

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 8 Jackson

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Cdh23v-8J

Allele Symbol: Cdh23v-8J

Cdh23ahl

Allele Symbol: Cdh23ahl

Disease Terms

Research Areas By Phenotype

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

Genotype: Cdh23v-8J related

Genotype: Cdh23ahl related

Mammalian Phenotype Terms by Genotype

Genotype: Cdh23v-8J/Cdh23v-8JC57BL/6J-Cdh23/J

behavior/neurological phenotype

hearing/vestibular/ear phenotype

References

Additional - Cdh23ahl related

Additional - Cdh23v-8J 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-8J

Allele Symbol: Cdh23^v-8J

Cdh23^ahl

Allele Symbol: Cdh23^ahl

Genotype: Cdh23^v-8J related

Genotype: Cdh23^ahl related

Genotype: Cdh23^v-8J/Cdh23^v-8J
C57BL/6J-Cdh23/J

Additional - Cdh23^ahl related

Additional - Cdh23^v-8J related