Overview

Also Known As: branchio otorenal syndrome

These mice carry the mouse Eya1^bor spontaneous insertional mutation that causes deafness and circling behavior.

Genetic overview

Genetic Background	Generation

Eya1^bor

Allele Type	Gene Symbol	Gene Name
Spontaneous	Eya1	EYA transcriptional coactivator and phosphatase 1

View Genetics

Research Applications

Mouse/Human Gene Homologs
Internal/Organ Research
Neurobiology Research
Sensorineural Research
Developmental Biology Research

View All Research Applications

Base Price

Starting at:

$2,595.00 Domestic price Cryo Recovery with Progeny Testing

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Details

Important Note

This strain is homozygous for the retinal degeneration allele Pde6b^rd1.

Detailed 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 Eya1^bor 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 Eya1^bor/Eya1^bor 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.

Development

The branchio otorenal syndrome mutation (Bor) arose spontaneously on the C3HeB/FeJ inbred strain at The Jackson Laboratory in 1984, when that inbred was at generation F123. This mutant subline was maintained by sibling inbreeding heterozgyotes with wild type siblings for over a decade then backcrossed twice to C3HeB/FeJ with intervening sibling inbreeding. Between 1997 and 1998 embryos were cryopreserved from C3HeB/FeJ females bred to heterozygous males at generation F29N2.

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Eya1^bor

Allele Symbol: Eya1^bor

Allele Name	branchio otorenal syndrome
Allele Type	Spontaneous
Allele Synonym(s)	branchio otorenal syndrome; Eya1^bor
Gene Symbol and Name	Eya1, EYA transcriptional coactivator and phosphatase 1
Gene Synonym(s)	BOP; BOR; branchiootorenal dysplasia; BOS1; OFC1; bor; bor
Strain of Origin	C3HeB/FeJ
Chromosome	1
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.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

branchiootorenal syndrome

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Eya1^bor related

Mouse/Human Gene Homologs
- branchiootorenal dysplasia, branchiootic syndrome
Internal/Organ Research
- Kidney Defects
Neurobiology Research
- Hearing Defects
Sensorineural Research
- Hearing Defects
Developmental Biology Research
- Internal/Organ Defects
  - kidney

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Eya1^bor/Eya1^bor
C3HeB/FeJ-Eya1

behavior/neurological phenotype

circling

head bobbing

mortality/aging

perinatal lethality, incomplete penetrance
- reduced litter size suggests perinatal lethality occurs probably relating to bilateral kidney agenesis or severe hypoplasia

renal/urinary system phenotype

renal hypoplasia
- 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

single kidney
- unilateral kidney agenesis is sometimes seen

reproductive system phenotype

female infertility
- females do not breed, however homozygous males will sometimes breed

hearing/vestibular/ear phenotype

abnormal common crus morphology
- the common crus which is formed where the superior and posterior semicircular canals meet is incomplete

absent organ of Corti
- the organ of Corti is absent however the pharyngeal pouches are normal

deafness

decreased cochlear coiling
- only the basal quarter turn of the cochlea is seen in adults

decreased lateral semicircular canal size
- the lateral semicircular canal is foreshortened with a smaller diameter compared to wild-type mice

increased or absent threshold for auditory brainstem response
- homozygotes show no response to sound pressures less than 95 dB at 3-4 weeks of age

homeostasis/metabolism phenotype

increased blood urea nitrogen level
- increased BUN indicates functional stress from reduced kidney size

The following phenotype relates to a compound genotype created using this strain

Genotype: Eya1^bor/Eya1^bor
involves: C3HeB/FeJ

hearing/vestibular/ear phenotype

abnormal cochlea morphology

abnormal orientation of cochlear hair cell stereociliary bundles
- adult mice exhibit short and disorganized stereocilia bundles that have a loss of polarity

abnormal semicircular canal ampulla morphology
- 13 of 20 mice have at least one ear with an absent anterior ampulla
- all mice at E18.5 have abnormal ampulla, either truncated or absent
- all mice have a malformed ampulla in the lateral section
- all mice have an absent ampulla in the posterior section

abnormal semicircular canal morphology

abnormal utricle morphology
- all mice have severely affected utricle

abnormal vestibular saccule morphology
- all mice at E18.5 have malformed saccule

decreased cochlear coiling
- all mice have shortened cochlear

decreased outer hair cell stereocilia number
- some of the outer hair cell bundles are missing in the middle and apical regions

decreased posterior semicircular canal size
- all mice at E18.5 have truncated posterior semicircular canals

decreased superior semicircular canal size
- 13 of 20 mice at E18.5 have truncated anterior semicircular canals

decreased vestibular hair cell number
- 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
- in the apex region, cochleae have many extra hair cells
- 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)

increased cochlear outer hair cell number
- there is a significant increase in the number of outer hair cells compared to controls

short endolymphatic duct
- 16 mice of 20 mice at E18.5 have a truncated endolymphatic duct

nervous system phenotype

abnormal orientation of cochlear hair cell stereociliary bundles
- adult mice exhibit short and disorganized stereocilia bundles that have a loss of polarity

decreased outer hair cell stereocilia number
- some of the outer hair cell bundles are missing in the middle and apical regions

decreased vestibular hair cell number
- 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
- in the apex region, cochleae have many extra hair cells
- 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)

increased cochlear outer hair cell number
- there is a significant increase in the number of outer hair cells compared to controls

References

Additional References

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):6815-24PubMed: 10490620 MGI: J:113793
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):219-31PubMed: 9006082 MGI: J:38379
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):157-64PubMed: 9020840 MGI: J:38771
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):11974-9PubMed: 9342347 MGI: J:43703
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):645-53PubMed: 10072433 MGI: J:54408
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):113-7PubMed: 10471511 MGI: J:57313

Additional - Eya1^bor related

Technical Support

Contact Technical Support

Genotyping Protocols
- Standard PCR: Eya1^bor
- Genotyping resources and troubleshooting
Appearance
- agouti, circling and head bobbing
  Related Genotype: A/A Eya1^bor/Eya1^bor
  
  agouti, unaffected
  Related Genotype: A/A Eya1^bor/+ or A/A Pde6b^rd1/Pde6b^rd1 +/?
Citation
When using the branchio otorenal syndrome mouse strain in a publication, please cite the originating article(s) and include JAX stock #002588 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or Wild-type for Eya1<bor>

A molecular assay to genotype this strain is not available. We will fulfill your order by providing at least two untested males and two untested females (two pairs). The total number, sex, and genotypes will vary, although typically 8 or more mice are provided. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing may be required – If recovered animals do not display a phenotype, progeny testing will be required. This testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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.

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Also Known As: branchio otorenal syndrome

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Eya1bor

Allele Symbol: Eya1bor

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Eya1bor related

Mammalian Phenotype Terms by Genotype

Genotype: Eya1bor/Eya1borC3HeB/FeJ-Eya1

behavior/neurological phenotype

mortality/aging

renal/urinary system phenotype

reproductive system phenotype

hearing/vestibular/ear phenotype

homeostasis/metabolism phenotype

Genotype: Eya1bor/Eya1borinvolves: C3HeB/FeJ

hearing/vestibular/ear phenotype

nervous system phenotype

References

Additional References

Additional - Eya1bor related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Eya1^bor

Allele Symbol: Eya1^bor

Genotype: Eya1^bor related

Genotype: Eya1^bor/Eya1^bor
C3HeB/FeJ-Eya1

Genotype: Eya1^bor/Eya1^bor
involves: C3HeB/FeJ

Additional - Eya1^bor related