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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names B6C3FeF1 a/A-Eya1bor/J (Changed: 18-FEB-05 ) Type Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Type *F1 Hybrid; Additional information on Hybrid Strains. Species laboratory mouse Generation N3 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. The Eya1bor/Eya1bor mice are deaf and their behavior is marked by circling and head-bobbing. They lack all but the most basal one-quarter of the cochlea, and the organ of Corti is completely absent. They have foreshortened, narrower semicircular canals and in some the common crus is incomplete. Their kidneys are absent or dysmorphic with greater severity generally on the left side. Fewer homozygotes than expected are born. 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. (Johnson et al., 1999)Mice heterozygous for a targeted mutation of Eya1 display a phenotype with hearing loss, renal defects (at low penetrance), and developmental disorders, paralleling the phenotype of mice homozygous for Eya1bor. TUNEL analysis on developing ears of the Eya1 targeted mutant mice revealed an increase in apoptotic cells in the otic vesicle at embryonic day 10.5. (Xu et al., 1999.)
Related Strains
Strains carrying A allele
002083 B6 x B6EiC3 a/A-T(7;16)235Dn/J 000507 B6 x B6EiC3 a/A-Otcspf/J 000628 B6.CE-A Amy1b Amy2b/J 004200 B6;CBACa Aw-J/A-Npr2cn-2J/J 000604 B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J 001752 B6CBCa Aw-J/A-T(7;15)9H/J 006450 B6EiC3 a/A-Vss/J 000557 B6EiC3-+ a/LnpUl A/J 000504 B6EiC3Sn a/A-Cacnb4lh/J 000553 B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J 001811 B6EiC3Sn a/A-Otcspf-ash/J 002343 B6EiC3Sn a/A-Otcspf/J 001923 B6EiC3Sn a/A-Ts(417)2Lws Tim/J 000200 C3FeB6 A/Aw-J-Ankank/J 000638 C3FeB6 A/Aw-J-Spnb4qv-J/J 000283 LT.CAST-A/J 001759 STOCK A Tyrc Sha/J View Strains carrying A (17 strains)
002588 C3HeB/FeJ-Eya1bor/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
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
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
This mouse can be used to support research in many areas including:Eya1bor related
Developmental 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
Genes & Alleles
Gene & Allele Information
| Allele Symbol | A | ||
|---|---|---|---|
| Allele Name | wild type | ||
| Allele Type | Not Applicable | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| 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. | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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]
A relatedEya1bor relatedCzyzyk TA; Sikorski MA; Yang L; McKnight GS. 2008. Disruption of the RIIbeta subunit of PKA reverses the obesity syndrome of Agouti lethal yellow mice. Proc Natl Acad Sci U S A 105(1):276-81. [PubMed: 18172198] [MGI Ref ID J:131039]
Jackson IJ; Budd PS; Keighren M; McKie L. 2007. Humanized MC1R transgenic mice reveal human specific receptor function. Hum Mol Genet 16(19):2341-8. [PubMed: 17652101] [MGI Ref ID J:129904]
Floyd 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; 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 |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
Additional Supply Details
| Pricing for International shipping destinations |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
Additional Supply Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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General Terms and Conditions
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