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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 Tyrp1b/Tyrp1b Ush1cdfcr Tyrc/Ush1cdfcr Tyrc
albino, unaffected
Related Genotype: A/A Tyrp1b/Tyrp1b Ush1cdfcr Tyrc/+ Tyrc or A/A Tyrp1b/Tyrp1b + Tyrc/+ TyrcDescription
Mice homozygous for either Ush1cdfcr or Ush1cdfcr-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 Ush1cdfcr 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 Ush1cdfcr but not Ush1cdfcr-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-Prkdcscid/J strain and was backcrossed twice to BALB/cByJ then sibling mated. In this way the Prkdcscid mutation was removed from this strain.
| Control | ||
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| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying other alleles of Ush1c
004768 B6;129S4-Ush1cdfcr-2J/J View Strains carrying other alleles of Ush1c (1 strain)
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
Ush1cdfcr/Ush1cdfcr
involves: BALB/cByJ
- behavior/neurological phenotype
- impaired balance (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:Ush1cdfcr 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
| 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] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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]
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]
Ush1cdfcr relatedEl-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]
| Pricing for USA, Canada and Mexico shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $127.90 Female or Male Homozygous for Ush1cdfcr *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $255.80 Homozygous for Ush1cdfcr x Heterozygous for Ush1cdfcr
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| Pricing for International shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $166.30 Female or Male Homozygous for Ush1cdfcr *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $332.60 Homozygous for Ush1cdfcr x Heterozygous for Ush1cdfcr
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| 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. |
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| Supply Notes |
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| Control | ||
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| 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. | ||
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