Description

Strain Information

Former Names BALB/cBy-Ush1cdfcr    (Changed: 15-DEC-04 ) Type Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse H2 Haplotype d Generation ?+N3F3 (01-DEC-06)

Appearance
albino, circling and head bobbing
Related Genotype: A/A Tyrp1^b/Tyrp1^b Ush1c^dfcr Tyr^c/Ush1c^dfcr Tyr^c

albino, unaffected
Related Genotype: A/A Tyrp1^b/Tyrp1^b Ush1c^dfcr Tyr^c/+ Tyr^c or A/A Tyrp1^b/Tyrp1^b + Tyr^c/+ Tyr^c

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 in the CBySmn.CB17-Prkdc^scid/J strain and was backcrossed twice to BALB/cByJ then sibling mated. In this way the Prkdc^scid mutation was removed from this strain.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Ush1c

004768

B6;129S4-Ush1cdfcr-2J/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/Ush1c^dfcr

        involves: BALB/cByJ

• 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 than 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
• vision/eye phenotype
• retinal degeneration (MGI Ref ID J:85400)
  • a slight peripheral retinal degeneration was observed at 9 months of age
• 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 than 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 related

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

Neurobiology Research
Vestibular and Hearing Defects

Sensorineural Research
Retinal Degeneration

Genes & Alleles

Gene & Allele Information

Allele Symbol		Ush1cdfcr
Allele Name		deaf circler
Allele Type		Spontaneous
Common Name(s)		dfcr;
Strain of Origin		CBySmn.CB17-Prkdcscid/J
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 mutation is 12.7kb deletion of the 28-exon Ush1c gene. The deletion includes the last 118 nucleotides of exon 12, all of exons 13 - 15 and of alternatively spliced, inner ear-specific exons A, B, C and D, and 110 base pairs of the intron following exon D. The transcription product is spliced in all tissues examined so that exon 11 is joined, in frame, to exon 16 to produce an mRNA lacking exons 12, 13, 14 and 15 of the wild-type message, encoding 132 of the 548 amino acids comprising the ubiquitously expressed harmonin isoform a1. In the inner ear, an additional, minor splice product of the mutant transcript results from in-frame splicing of exon 11 to inner ear-specific exon E; this mRNA lacks 1137 nucleotides derived from exons 12, 13, 14, 15, A, B, C and D, encoding 379 amino acids of the wild-type inner ear-specific harmonin isoform b. [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]

Ush1c^dfcr related

El-Amraoui A; Petit C. 2005. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci 118(Pt 20):4593-603. [PubMed: 16219682]  [MGI Ref ID J:102194]

Reiners J; Nagel-Wolfrum K; Jurgens K; Marker T; Wolfrum U. 2006. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 83(1):97-119. [PubMed: 16545802]  [MGI Ref ID J:116295]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection.

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

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