JAX Mouse Strain Datasheet - 004768

B6;129S4-Ush1c^dfcr-2J/J

Stock No:: 004768 |; deaf circler 2 Jackson

Spontaneous Mutation

Cryo Recovery

Overview

Also Known As: deaf circler 2 Jackson

These mice carry a spontaneous mutation at the Ush1c locus characterized by head tossing, hyperactive circling, and disorientation in water.

Genetic overview

Genetic Background	Generation

Ush1c^dfcr-2J

Allele Type	Gene Symbol	Gene Name
Spontaneous (Modified isoform(s))	Ush1c	USH1 protein network component harmonin

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Research Applications

Neurobiology Research
Sensorineural Research

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Base Price

Starting at:

$2,625.00 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for either Ush1c^dfcr or Ush1c^dfcr-2J display head tossing and hyperactive circling. They are unable to orient themselves in water to swim at the surface. Despite these behavioral traits, these mice are able to breed and have normal life spans. Adult homozygotes have no auditory-evoked brainstem response. This complete deafness was found in an Ush1c^dfcr homozygote as early as 21 days of age. Scanning electron micrographs of the organ of Corti at 3 weeks of age reveal disorganized and splayed stereocilia of outer hair cells and, less severely, of inner hair cells along with degeneration of hair cells that yields a disorganized hair cell pattern. While progressive loss of hair cells and a secondary loss of spiral ganglion cells are found and are severe by 8 months of age, no gross morphological abnormalities were discerned in whole mounts of inner ears. At 9 months of age a slight peripheral retinal degeneration is found in mice homozygous for Ush1c^dfcr but not Ush1c^dfcr-2J. These phenotypes have not been identified in mice heterozygous for either allele. (Johnson et al., 2003.)

Development

The dfcr-2J allele of Ush1c arose spontaneously on a mixed background of C57BL/6J and 129S4 in which a targeted mutation of adducin 2 was segregating. The adducin 2 mutation has been bred out of this strain.

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Johnson KR; Gagnon LH; Webb LS; Peters LL; Hawes NL; Chang B; Zheng QY. 2003. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum Mol Genet 12(23):3075-86. PubMed: 14519688 MGI: J:85400

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Genetics

Ush1c^dfcr-2J

Allele Symbol: Ush1c^dfcr-2J

Allele Name	deaf circler 2 Jackson
Allele Type	Spontaneous (Modified isoform(s))
Allele Synonym(s)
Gene Symbol and Name	Ush1c, USH1 protein network component harmonin
Gene Synonym(s)	2010016F01Rik; 2010016F01Rik; AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; RIKEN cDNA 2010016F01 gene; Usher syndrome 1C; harmonin; ush1cpst
Strain of Origin	B6;129S4-Add2
Chromosome	7
Molecular Note	The dfcr-2J mutation has been identified as the deletion of a single base pair, the fourth nucleotide in the inner ear-specific exon C of the 28-exon Ush1c gene. This shifts the translational reading frame shift so that 38 incorrect amino acids are incorporated before a premature stop codon is encountered.

Disease/Phenotype

Disease Terms

Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.

Usher Syndrome, Type I; USH1 (USH1C)

Research Areas By Genotype

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

Genotype: Ush1c^dfcr-2J related

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

Mammalian Phenotype Terms by Genotype

Genotype: Ush1c^dfcr-2J/Ush1c^dfcr-2J
B6;129S4

behavior/neurological phenotype

circling

head tossing

impaired balance

hearing/vestibular/ear phenotype

abnormal inner hair cell stereociliary bundle morphology
- at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed that stereocilia of the inner hair cells displayed a milder disorganization compared to the outer hair cells

abnormal outer hair cell stereociliary bundle morphology
- at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed disorganization of the normally rigid and structured outer hair cell stereocilia

cochlear inner hair cell degeneration

cochlear outer hair cell degeneration

deafness
- mice are congenitally deaf

increased or absent threshold for auditory brainstem response
- complete absence of acoustic brainstem response at 3 weeks of age

vestibular hair cell degeneration
- 3 month old mice displayed a progressive loss of vestibular hair cells

nervous system phenotype

abnormal inner hair cell stereociliary bundle morphology
- at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed that stereocilia of the inner hair cells displayed a milder disorganization compared to the outer hair cells

abnormal outer hair cell stereociliary bundle morphology
- at 3 weeks of age, before hair cell degeneration was apparent, examination of of the organ of Corti revealed disorganization of the normally rigid and structured outer hair cell stereocilia

cochlear inner hair cell degeneration

cochlear outer hair cell degeneration

vestibular hair cell degeneration
- 3 month old mice displayed a progressive loss of vestibular hair cells

References

Johnson KR; Gagnon LH; Webb LS; Peters LL; Hawes NL; Chang B; Zheng QY. 2003. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum Mol Genet 12(23):3075-86. PubMed: 14519688 MGI: J:85400

Additional References

Boeda B; El-Amraoui A; Bahloul A; Goodyear R; Daviet L; Blanchard S; Perfettini I; Fath KR; Shorte S; Reiners J; Houdusse A; Legrain P; Wolfrum U; Richardson G; Petit C. 2002. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 21(24):6689-99. PubMed: 12485990 MGI: J:80836
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):463-71. PubMed: 12588794 MGI: J:82023

Additional - Ush1c^dfcr-2J related

Grillet N; Xiong W; Reynolds A; Kazmierczak P; Sato T; Lillo C; Dumont RA; Hintermann E; Sczaniecka A; Schwander M; Williams D; Kachar B; Gillespie PG; Muller U. 2009. Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron 62(3):375-87. PubMed: 19447093 MGI: J:157359

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Please inquire about possible genotypes.

Progeny testing is not required

The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks.

The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

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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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Questions about Terms of Use

Licensing Information

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Also Known As: deaf circler 2 Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Ush1cdfcr-2J

Allele Symbol: Ush1cdfcr-2J

Disease Terms

Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.

Research Areas By Genotype

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

Genotype: Ush1cdfcr-2J related

Mammalian Phenotype Terms by Genotype

Genotype: Ush1cdfcr-2J/Ush1cdfcr-2JB6;129S4

behavior/neurological phenotype

hearing/vestibular/ear phenotype

nervous system phenotype

References

Additional References

Additional - Ush1cdfcr-2J related

Genotyping Protocols

Appearance

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Progeny testing is not required

RELATED PRODUCTS AND SERVICES

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Ush1c^dfcr-2J

Allele Symbol: Ush1c^dfcr-2J

Genotype: Ush1c^dfcr-2J related

Genotype: Ush1c^dfcr-2J/Ush1c^dfcr-2J
B6;129S4

Additional - Ush1c^dfcr-2J related