Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6129-Ush1cdfcr-2J    (Changed: 15-DEC-04 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype b Generation ?+F4+N1p (30-MAY-04) Generation Definitions

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

006853	B6.129-Ush1ctm1Xzl/Kjn
004771	BALB/cBy-Ush1cdfcr/J
012426	CBACa.129S6(Cg)-Ush1ctm1Bkts/J
006104	STOCK Ush1cdfcr-3J/J

View Strains carrying other alleles of Ush1c     (4 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- 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).

Deafness, Autosomal Recessive 18a; DFNB18A
Usher Syndrome, Type Ic; USH1C

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Usher Syndrome, Type I; USH1   (USH1C)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

        B6;129S4

• behavior/neurological phenotype
• circling   (MGI Ref ID J:85400)
• head tossing   (MGI Ref ID J:85400)
• impaired balance   (MGI Ref ID J:85400)
• 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   (MGI Ref ID J:85400)
• 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   (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
  • mice are congenitally deaf   (MGI Ref ID J:85400)
• increased or absent threshold for auditory brainstem response
  • complete absence of acoustic brainstem response at 3 weeks of age   (MGI Ref ID J:85400)
• vestibular hair cell degeneration
  • 3 month old mice displayed a progressive loss of vestibular hair cells   (MGI Ref ID J:85400)
• 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   (MGI Ref ID J:85400)
• 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   (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)
• vestibular hair cell degeneration
  • 3 month old mice displayed a progressive loss of vestibular hair cells   (MGI Ref ID J:85400)

View Research Applications

Research Applications

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

Ush1c^dfcr-2J related

Neurobiology Research
Hearing Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

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
Chromosome		7
Gene Common Name(s)		2010016F01Rik; AIE-75; DFNB18; DFNB18A; 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

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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]

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 Ref ID J:157359]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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