Description

Strain Information

Former Names B6129-Ush1cdfcr-2J    (Changed: 15-DEC-04 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse H2 Haplotype b

Appearance
white-bellied agouti, head tossing & circling
Related Genotype: A^w/A^w Ush1^dfcr-2J/Ush1^dfcr-2J

white-bellied agouti, unaffected
Related Genotype: A^w/A^w Ush1^dfcr-2J/+ or A/A +/+

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 Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Ush1c

004771

BALB/cBy-Ush1cdfcr/J

View Strains carrying other alleles of Ush1c     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

	Deafness, Neurosensory, Autosomal Recessive 18; DFNB18 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
	Usher Syndrome, Type Ic; USH1C - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Ush1c^dfcr-2J/Ush1c^dfcr-2J

        B6;129S4

• behavior/neurological phenotype
• impaired balance (MGI Ref ID J:85400)
• circling (MGI Ref ID J:85400)
• head tossing (MGI Ref ID J:85400)
• hearing/vestibular/ear phenotype
• abnormal inner hair cell stereociliary bundle morphology (MGI Ref ID J:85400)
  • 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 (MGI Ref ID J:85400)
  • 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
• absent brainstem auditory evoked potential (MGI Ref ID J:85400)
  • complete absence of acoustic brainstem response at 3 weeks of age
• circling (MGI Ref ID J:85400)
• cochlear inner hair cell degeneration (MGI Ref ID J:85400)
• cochlear outer hair cell degeneration (MGI Ref ID J:85400)
• deafness (MGI Ref ID J:85400)
  • mice are congenitally deaf
• head tossing (MGI Ref ID J:85400)
• vestibular hair cell degeneration (MGI Ref ID J:85400)
  • 3 month old mice displayed a progressive loss of vestibular hair cells
• nervous system phenotype
• abnormal inner hair cell stereociliary bundle morphology (MGI Ref ID J:85400)
  • 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 (MGI Ref ID J:85400)
  • 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 (MGI Ref ID J:85400)
• cochlear outer hair cell degeneration (MGI Ref ID J:85400)
• vestibular hair cell degeneration (MGI Ref ID J:85400)
  • 3 month old mice displayed a progressive loss of vestibular hair cells

View Research Applications

Research Applications

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

Ush1c^dfcr-2J related

Mouse/Human Gene Homologs
Usher syndrome, type IC (USH1C) (deafness, neurosensory, autosomal recessive 18)

Neurobiology Research
Vestibular and Hearing Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Ush1cdfcr-2J
Allele Name		deaf circler 2 Jackson
Allele Type		Spontaneous
Strain of Origin		B6;129S4-Add2
Gene Symbol and Name		Ush1c, Usher syndrome 1C homolog (human)
Chromosome		7
Gene Common Name(s)		2010016F01Rik; AIE-75; DFNB18; MGC112571; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; RIKEN cDNA 2010016F01 gene; harmonin; ush1cpst;
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. [MGI Ref ID J:85400]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

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 Ref ID 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 Ref ID 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 Ref ID J:82023]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryopreserved Embryos This strain is also available as cryopreserved embryos from our Repository. Orders for cryopreserved embryos are supplied subject to a signed agreement that must be returned to the Customer Service Department after order placement. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos from our repository, please visit our Cryopreserved Embryos web page. Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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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Contact Information
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

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