Mice homozygous for the Ush1g^js allele are deaf, circle, and toss their heads from side to side. They are viable and fertile but due to their circling gait females may trample their pups and thus should not be used for breeding. No auditory brain response was detected from homozygotes at 14, 21, and 30 days of age. At 10-14 days of age the stereocilia of the outer and macular hair cells are disarrayed or missing although no abnormal phenotype is evident in inner hair cells, or in the gross anatomy of the cochlea or vestibule. The steriocilia degeneration in outer hair cells continues but the inner hair cells remain normal at 30-47 days of age. (Dickie and Deol, 1967; Kitamura et al., 1992.)

Development

The js allele of Ush1g arose spontaneously on the A/J background at The Jackson Laboratory in 1963. It was backcrossed to C57BL/6J for 17 generations, then in 1982 embryos were generated and frozen from C57BL/6J females bred with N17 heterozygous males. (Dickie and Deol, 1967.)

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Ush1g^js

Allele Symbol: Ush1g^js

Allele Name	Jackson shaker
Allele Type	Spontaneous
Allele Synonym(s)	js
Gene Symbol and Name	Ush1g, USH1 protein network component sans
Gene Synonym(s)
Strain of Origin	A/J
Chromosome	11
Molecular Note	The mutation was identified as a single bp insertion of a guanine within a stretch of six guanines at nucleotide position 675-80. The insertion causes a frame shift mutation that results in a truncated protein at amino acid position 245. The resultant protein lacks the C-terminal SAM domain.

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 1G

Research Areas By Phenotype

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

Genotype: Ush1g^js related

Neurobiology Research
- Hearing Defects
- Vestibular Defects
Sensorineural Research
- Hearing Defects
- Vestibular Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Ush1g^js/Ush1g^js
B6.A-Ush1g/J

hearing/vestibular/ear phenotype

abnormal vestibular hair cell stereociliary bundle morphology
- in hair cells of the utricular and saccular maculae, the classical pipe organ configuration of the stereocilia was not observed
- incomplete differentiation of stereocilia of the maculae

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

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
- stereocilia of the small and medium rows have round, oblate tips instead of prolate tips
- E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles

abnormal orientation of cochlear hair cell stereociliary bundles
- the mean absolute kinociliary deviation is 25 degrees compared to 8 degrees in wild-type mice
- kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 37% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice

abnormal outer hair cell stereociliary bundle morphology
- incomplete differentiation of stereocilia of the outer hair cells
- E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
- outer hair cells did not show regular W-shaped configuration of the stereocilia throughout the entire turns of the cochlea except for a few hair cells
- stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles

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

short cochlear outer hair cells
- many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further

deafness

increased or absent threshold for auditory brainstem response
- no ABR response in homozygous mice was recorded at any age

cochlear outer hair cell degeneration

nervous system phenotype

abnormal inner hair cell stereociliary bundle morphology
- stereocilia of the small and medium rows have round, oblate tips instead of prolate tips
- 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

abnormal orientation of cochlear hair cell stereociliary bundles
- kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 37% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice
- the mean absolute kinociliary deviation is 25 degrees compared to 8 degrees in wild-type mice

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

abnormal outer hair cell stereociliary bundle morphology
- outer hair cells did not show regular W-shaped configuration of the stereocilia throughout the entire turns of the cochlea except for a few hair cells
- stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
- E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
- incomplete differentiation of stereocilia of the outer hair cells

short cochlear outer hair cells
- many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further

abnormal vestibular hair cell stereociliary bundle morphology
- in hair cells of the utricular and saccular maculae, the classical pipe organ configuration of the stereocilia was not observed
- incomplete differentiation of stereocilia of the maculae

cochlear outer hair cell degeneration

behavior/neurological phenotype

circling

abnormal pinna reflex

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

hyperactivity

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

head shaking

Genotype: Ush1g^js/Ush1g⁺
B6.A-Ush1g/J

hearing/vestibular/ear phenotype

reduced linear vestibular evoked potential
- elevated threshold and reduced amplitudes

References

Additional References

Kikkawa Y; Shitara H; Wakana S; Kohara Y; Takada T; Okamoto M; Taya C; Kamiya K; Yoshikawa Y; Tokano H; Kitamura K; Shimizu K; Wakabayashi Y; Shiroishi T; Kominami R; Yonekawa H. 2003. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 12(5):453-61PubMed: 12588793 MGI: J:82022
Kitamura K; Kakoi H; Yoshikawa Y; Ochikubo F. 1992. Ultrastructural findings in the inner ear of Jackson shaker mice. Acta Otolaryngol (Stockh) 112(4):622-7PubMed: 1442008 MGI: J:2196
Weil D; El-Amraoui A; Masmoudi S; Mustapha M; Kikkawa Y; Laine S; Delmaghani S; Adato A; Nadifi S; Zina ZB; Hamel C; Gal A; Ayadi H; Yonekawa H; Petit C. 2003. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 12(5):463-71PubMed: 12588794 MGI: J:82023

Additional - Ush1g^js related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Do not use homozygous females for breeders as they are bad mothers and often kill the litters while running around in circles.
- Additional Breeding and Husbandry Support
Appearance
- black, circling
  Related Genotype: a/a Ush1g^js/Ush1g^js
  
  black, unaffected
  Related Genotype: a/a Ush1g^js/+
Citation
When using the Jackson shaker mouse strain in a publication, please cite the originating article(s) and include JAX stock #000783 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 Ush1g<js>

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:Jackson shaker

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Ush1gjs

Allele Symbol: Ush1gjs

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: Ush1gjs related

Mammalian Phenotype Terms by Genotype

Genotype: Ush1gjs/Ush1gjsB6.A-Ush1g/J

hearing/vestibular/ear phenotype

nervous system phenotype

behavior/neurological phenotype

Genotype: Ush1gjs/Ush1g+B6.A-Ush1g/J

hearing/vestibular/ear phenotype

References

Additional References

Additional - Ush1gjs related

Genotyping Protocols

Breeding Considerations

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

Ush1g^js

Allele Symbol: Ush1g^js

Genotype: Ush1g^js related

Genotype: Ush1g^js/Ush1g^js
B6.A-Ush1g/J

Genotype: Ush1g^js/Ush1g⁺
B6.A-Ush1g/J

Additional - Ush1g^js related