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Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F29+N2+N1 Appearance
agouti, circling and head bobbing
Related Genotype: A/A Eya1bor/Eya1bor
agouti, unaffected
Related Genotype: A/A Eya1bor/+ or A/A Pde6brd1/Pde6brd1 +/?Important Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Description
The human Branchio-Oto-Renal Syndrome is generally a dominant disorder with incomplete penetrance and variable expressivity resulting from null mutations in the EYA1 gene. The mouse Eya1bor allele is primarily a recessive hypomorphic mutation. Nevertheless, homozygous mice with this hypomorphic allele offer a good model for Branchio-Oto-Renal Syndrome. The phenotype of Eya1bor/Eya1bor mice parallels that of the human Branchio-Oto-Renal Syndrome and both are thought to result from reduced gene dosage. During mapping crosses using CAST/Ei and C3H/HeJ, it was found that genetic background impacts both the kidney and inner ear phenotypes, and modifier genes in humans also may impact the severity of Branchio-Oto-Renal-Syndrome.
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying Eya1bor allele
003301 (C57BL/6J x C3H-Eya1bor)F1/J View Strains carrying Eya1bor (1 strain)
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
Strains carrying other alleles of Pde6b
004297 B6.CXB1-Pde6brd10/J 003647 B6EiC3Sn.BLiAF1 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J View Strains carrying other alleles of Pde6b (9 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Branchiootorenal Syndrome 1; BOR1 - 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
Eya1bor/Eya1bor
involves: C3HeB/FeJ
- hearing/vestibular/ear phenotype
- abnormal cochlea morphology (MGI Ref ID J:140027)
- abnormal orientation of cochlear hair cell stereociliary bundles (MGI Ref ID J:140027)
- adult mice exhibit short and disorganized stereocilia bundles that have a loss of polarity
- decreased cochlear coiling (MGI Ref ID J:140027)
- all mice have shortened cochlear
- decreased outer hair cell stereocilia number (MGI Ref ID J:140027)
- some of the outer hair cell bundles are missing in the middle and apical regions
- increased cochlear inner hair cell number (MGI Ref ID J:140027)
- there are slightly increased numbers of inner hair cells in the middle region of E18.5 embryos (15.2 vs. 13.5 in wild-type)
- in the apex region, cochleae have many extra hair cells
- increased cochlear outer hair cell number (MGI Ref ID J:140027)
- there is a significant increase in the number of outer hair cells compared to controls
- abnormal saccule morphology (MGI Ref ID J:140027)
- all mice at E18.5 have malformed saccule
- abnormal semicircular canal (MGI Ref ID J:140027)
- abnormal semicircular canal ampulla morphology (MGI Ref ID J:140027)
- all mice at E18.5 have abnormal ampulla, either truncated or absent
- 13 of 20 mice have at least one ear with an absent anterior ampulla
- all mice have an absent ampulla in the posterior section
- all mice have a malformed ampulla in the lateral section
- decreased posterior semicircular canal size (MGI Ref ID J:140027)
- all mice at E18.5 have truncated posterior semicircular canals
- decreased superior semicircular canal size (MGI Ref ID J:140027)
- 13 of 20 mice at E18.5 have truncated anterior semicircular canals
- abnormal utricle morphology (MGI Ref ID J:140027)
- all mice have severely affected utricle
- decreased vestibular hair cell number (MGI Ref ID J:140027)
- there is a significant reduction in the number of hair cells found in the sacculle of mice (875 vs. 1705 in wild-type)
- there is a similar reduction in the number of hair cells found in the utricle
- short endolymphatic duct (MGI Ref ID J:140027)
- 16 mice of 20 mice at E18.5 have a truncated endolymphatic duct
- nervous system phenotype
- abnormal orientation of cochlear hair cell stereociliary bundles (MGI Ref ID J:140027)
- adult mice exhibit short and disorganized stereocilia bundles that have a loss of polarity
- decreased outer hair cell stereocilia number (MGI Ref ID J:140027)
- some of the outer hair cell bundles are missing in the middle and apical regions
- decreased vestibular hair cell number (MGI Ref ID J:140027)
- there is a significant reduction in the number of hair cells found in the sacculle of mice (875 vs. 1705 in wild-type)
- there is a similar reduction in the number of hair cells found in the utricle
- increased cochlear inner hair cell number (MGI Ref ID J:140027)
- there are slightly increased numbers of inner hair cells in the middle region of E18.5 embryos (15.2 vs. 13.5 in wild-type)
- in the apex region, cochleae have many extra hair cells
- increased cochlear outer hair cell number (MGI Ref ID J:140027)
- there is a significant increase in the number of outer hair cells compared to controls
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Eya1bor/Eya1bor
C3H/HeJ-Eya1bor
- lethality-prenatal/perinatal
- perinatal lethality (MGI Ref ID J:54408)
- reduced litter size suggests perinatal lethality occurs probably relating to bilateral kidney agenesis or severe hypoplasia
- behavior/neurological phenotype
- circling (MGI Ref ID J:54408)
- head bobbing (MGI Ref ID J:54408)
- hearing/vestibular/ear phenotype
- abnormal common crus morphology (MGI Ref ID J:54408)
- the common crus which is formed where the superior and posterior semicircular canals meet is incomplete
- absent brainstem auditory evoked potential (MGI Ref ID J:54408)
- homozygotes show no response to sound pressures less than 95 dB at 3-4 weeks of age
- absent organ of Corti (MGI Ref ID J:54408)
- the organ of Corti is absent however the pharyngeal pouches are normal
- circling (MGI Ref ID J:54408)
- deafness (MGI Ref ID J:54408)
- decreased cochlear coiling (MGI Ref ID J:54408)
- only the basal quarter turn of the cochlea is seen in adults
- decreased lateral semicircular canal size (MGI Ref ID J:54408)
- the lateral semicircular canal is foreshortened with a smaller diameter compared to wild-type mice
- head bobbing (MGI Ref ID J:54408)
- homeostasis/metabolism phenotype
- increased blood urea nitrogen level (MGI Ref ID J:54408)
- increased BUN indicates functional stress from reduced kidney size
- renal/urinary system phenotype
- absent kidney (MGI Ref ID J:54408)
- unilateral kidney agenesis is sometimes seen
- renal hypoplasia (MGI Ref ID J:54408)
- unilateral or bilateral kidney hypoplasia is more commonly seen (compared to agenesis) with the left kidney more affected than the right
- within the hypoplastic kidneys normal cellular morphology is seen
- reproductive system phenotype
- female infertility (MGI Ref ID J:54408)
- females do not breed, however homozygous males will sometimes breed
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Eya1bor related
Pde6brd1 relatedDevelopmental Biology Research
Internal/Organ Defects
kidney
Internal/Organ Research
Kidney Defects
Mouse/Human Gene Homologs
branchiootorenal dysplasia, branchiootic syndrome
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
| Allele Symbol | Eya1bor | ||
|---|---|---|---|
| Allele Name | branchio otorenal syndrome | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | C3H/HeJ | ||
| Gene Symbol and Name | Eya1, eyes absent 1 homolog (Drosophila) | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | BOP; BOR; MGC141875; bor; branchiootorenal dysplasia; | ||
| Molecular Note | Insertion of an intracisternal A particle (IAP) element in intron 7. The presence of the IAP insertion was associated with reduced expression of the normal mRNA and aberrant splicing. | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
Abdelhak S; Kalatzis V; Heilig R; Compain S; Samson D; Vincent C; Weil D; Cruaud C; Sahly I; Leibovici M; Bitner-Glindzicz M; Francis M; Lacombe D; Vigneron J; Charachon R; Boven K; Bedbeder P; Van Regemorter N; Weissenbach J; Petit C. 1997. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15(2):157-64. [PubMed: 9020840] [MGI Ref ID J:38771]
Johnson KR; Cook SA; Erway LC; Matthews AN; Sanford LP; Paradies NE ; Friedman RA. 1999. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum Mol Genet 8(4):645-53. [PubMed: 10072433] [MGI Ref ID J:54408]
Ohto H; Kamada S; Tago K; Tominaga SI; Ozaki H; Sato S; Kawakami K. 1999. Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya. Mol Cell Biol 19(10):6815-24. [PubMed: 10490620] [MGI Ref ID J:113793]
Xu PX; Adams J; Peters H; Brown MC; Heaney S; Maas R. 1999. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 23(1):113-7. [PubMed: 10471511] [MGI Ref ID J:57313]
Xu PX; Cheng J; Epstein JA; Maas RL. 1997. Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function. Proc Natl Acad Sci U S A 94(22):11974-9. [PubMed: 9342347] [MGI Ref ID J:43703]
Xu PX; Woo I; Her H; Beier DR; Maas RL. 1997. Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development 124(1):219-31. [PubMed: 9006082] [MGI Ref ID J:38379]
Eya1bor relatedFloyd JA; Gold DA; Concepcion D; Poon TH; Wang X; Keithley E; Chen D; Ward EJ; Chinn SB; Friedman RA; Yu HT; Moriwaki K; Shiroishi T; Hamilton BA. 2003. A natural allele of Nxf1 suppresses retrovirus insertional mutations. Nat Genet 35(3):221-8. [PubMed: 14517553] [MGI Ref ID J:86371]
Friedman RA; Makmura L; Biesiada E; Wang X; Keithley EM. 2005. Eya1 acts upstream of Tbx1, Neurogenin 1, NeuroD and the neurotrophins BDNF and NT-3 during inner ear development. Mech Dev 122(5):625-34. [PubMed: 15817220] [MGI Ref ID J:98114]
Johnson KR; Cook SA; Erway LC; Matthews AN; Sanford LP; Paradies NE ; Friedman RA. 1999. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum Mol Genet 8(4):645-53. [PubMed: 10072433] [MGI Ref ID J:54408]
Niu H; Li X; Makmura L; Friedman RA. 2008. Mapping of genetic modifiers of Eya1 ( bor/bor ) in CAST/EiJ and BALB/cJ that suppress cochlear aplasia and associated deafness. Mamm Genome 19(9):634-9. [PubMed: 18836772] [MGI Ref ID J:148630]
Niu H; Makmura L; Shen T; Sheth SS; Blair K; Friedman RA. 2006. Identification of two major loci that suppress hearing loss and cochlear dysmorphogenesis in Eya1bor/bor mice. Genomics 88(3):302-8. [PubMed: 16488112] [MGI Ref ID J:114904]
Sajithlal G; Zou D; Silvius D; Xu PX. 2005. Eya 1 acts as a critical regulator for specifying the metanephric mesenchyme. Dev Biol 284(2):323-36. [PubMed: 16018995] [MGI Ref ID J:100569]
Zou D; Erickson C; Kim EH; Jin D; Fritzsch B; Xu PX. 2008. Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear. Hum Mol Genet 17(21):3340-56. [PubMed: 18678597] [MGI Ref ID J:140027]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
| 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. | ||
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Contact Information
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Technical Support Email Form
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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