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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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
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 Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Eya1bor allele
003301 (C57BL/6J x C3H-Eya1bor)F1/J View Strains carrying Eya1bor (1 strain)
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
Phenotype
Phenotype Information
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).
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
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
Genes & Alleles
Gene & Allele Information
| 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; | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
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]
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
| 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.
Additional Supply Details
| 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
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. | ||
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See Terms of Use tab for General Terms and Conditions
The Jackson Laboratory's Genotype Promise
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.Ordering and Purchasing Information
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