Overview

These mice carry an ENU-induced mutation and are characterized by small body size, body tremors, slightly abnormal movement of hind limbs, and hearing abnormalities.

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

nmf118

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	nmf118	neuroscience mutagenesis facility, 118

Cdh23^ahl

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

View Genetics

Research Applications

Sensorineural Research
Neurobiology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

Details

Important Note

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

Detailed Description

The mutants are small, show body tremor, and slightly abnormal movement of hind limbs; toes are frequently curled and the foot pads do not make proper contact with the ground. In addition, abnormal results in two phenotypic screens were observed: grip strength and auditory brainstem response (ABR). Of two mutants tested for grip strength, one showed reduced values, and of four mutants tested for ABR, two were deaf, one showed reduced hearing ability at 16 and 32 Hz, and one tested normal. These results, combined with the pathology findings, suggest that these are mutants with hearing abnormalities.

Standard pathology work-up on two mutants (110 or 150 days of age) showed degenerating muscle fibers mixed with giant fibers in the

spinal muscle.

A deficiency of neurons in the

spiral ganglia (

normal spinal ganglia)

and an absence of hair cells were noted in the ear. Standard pathology performed on a much younger mutant (36 days of age) revealed 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

Unaffected littermates of affected mice

Additional Information

Considerations for Choosing Controls

Genetics

nmf118

Allele Symbol: nmf118

Allele Name	neuroscience mutagenesis facility, 118
Allele Type	Chemically induced (ENU)
Allele Synonym(s)
Gene Symbol and Name	nmf118, neuroscience mutagenesis facility, 118
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	10
Molecular Note	This phenotypic mutant was identified in an ENU mutagenesis screen.

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^ahl related

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

Genotype: nmf118 related

Neurobiology Research
- Neuromuscular defects
- Tremor Defects
- Hearing Defects
- Neuroscience Mutagenesis Facility Strain
Sensorineural Research
- Hearing Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: nmf118/nmf118
C57BL/6J-nmf118/J

behavior/neurological phenotype

decreased grip strength
- one of two mutant mice tested showed diminished grip strength

tremors
- mice were described as having a considerable body tremor

growth/size/body region phenotype

decreased body size
- mutants are noted as smaller than littermates

hearing/vestibular/ear phenotype

cochlear hair cell degeneration
- hair cells of the inner ear were found to be absent upon pathological examination of two mutant mice aged 110 and 150 days; no hair cell deficiency was noted in inner ears of a 36 day old mouse

abnormal auditory brainstem response
- of four mutant mice tested for auditory brainstem response (ABR), one mouse had normal hearing, two were deaf and one exhibited reduced responses at 16 and 32 Hz

muscle phenotype

muscle degeneration
- degenerating muscle fibers mixed with giant fibers were observed in the spinal muscle of two mutant mice aged 110 and 150 days upon standard pathological examination

nervous system phenotype

cochlear hair cell degeneration
- hair cells of the inner ear were found to be absent upon pathological examination of two mutant mice aged 110 and 150 days; no hair cell deficiency was noted in inner ears of a 36 day old mouse

cochlear ganglion degeneration
- the spiral ganglia of two mutant mice aged 110 and 150 days were found to be deficient in neurons upon standard pathological examination; this deficiency was not observed in a 36 day old mouse

References

Additional - Cdh23^ahl related

Additional - nmf118 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black, trembling
  Related Genotype: a/a nmf118/nmf118
  
  black, unaffected
  Related Genotype: a/a nmf118/+, a/a +/+
Citation
When using the C57BL/6J-nmf118/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004747 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 nmf118

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

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

nmf118

Allele Symbol: nmf118

Cdh23ahl

Allele Symbol: Cdh23ahl

Disease Terms

Research Areas By Phenotype

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

Genotype: Cdh23ahl related

Genotype: nmf118 related

Mammalian Phenotype Terms by Genotype

Genotype: nmf118/nmf118C57BL/6J-nmf118/J

behavior/neurological phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

muscle phenotype

nervous system phenotype

References

Additional - Cdh23ahl related

Additional - nmf118 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^ahl

Allele Symbol: Cdh23^ahl

Genotype: Cdh23^ahl related

Genotype: nmf118/nmf118
C57BL/6J-nmf118/J

Additional - Cdh23^ahl related