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Strain Name:

C3HeB/FeJ-Eya1bor/J

Stock Number:

002588

Availability:

Repository-Cryopreserved


General Terms and Conditions

Genes & Alleles   Eya1;   Eya1bor;   Pde6b;   Pde6brd1;


Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
GenerationF29+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.

Strain 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.

Related Disease (OMIM) Terms

Branchiootorenal Syndrome 1; BOR1
Mammalian Phenotype Terms 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

Gene & Allele Details

Allele Symbol Eya1bor
Allele Name branchio otorenal syndrome
Strain of OriginC3H/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
Common Name(s) rd; rd-1; rd1; rodless retina;

Control Information

  Allele   Control
 Eya1bor  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)

Strains carrying   Pde6brd1 allele
004202   B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J
000002   B6.C3-Pde6brd1 Hps4le/J
001022   B6C3FeF1/J a/a
000652   BDP/J
000653   BUB/BnJ
002439   C3.129P2(B6)-B2mtm1Unc/J
005494   C3.129S1(B6)-Grm1rcw/J
000480   C3.MRL-Faslpr/J
001957   C3A Pde6brd1.O20/A-Prph2Rd2/J
005973   C3Bir.129P2(B6)-Il10C3Bir/LtJ
004326   C3Bir.129P2(B6)-Il10tm1Cgn/Lt
003968   C3Bir.129P2(B6)-Il10tm1Cgn/LtJ
001906   C3Ga.Cg-Catb/J
001904   C3H-Atcayji-hes/J
000659   C3H/HeJ
000784   C3H/HeJ-Faslgld/J
000509   C3H/HeJ-Lystbg-2J/J
002433   C3H/HeJ-Spnb4qv-lnd2J/J
005972   C3H/HeJBirLtJ
001824   C3H/HeJSxJ
000635   C3H/HeOuJ
000474   C3H/HeSn
001431   C3H/HeSn-ocd/J
000661   C3H/HeSnJ
002235   C3H/HeSnJ-Ctnna2cdf/J
002333   C3H/HeSnJ-gri/J
006435   C3HeB.SW-Soaa/MonJ
000658   C3HeB/FeJ
001576   C3HeB/FeJ-Atp7btx-J/J
001533   C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J
001886   C3HeB/FeJLe a/a-gnd/J
001908   C3HfB/BiJ
001502   C3Sn.B6-Epha4rb/J
001547   C3Sn.Cg-Cm/J
000656   CBA/J
000813   CBA/J-Atp7aMo-pew/J
000660   DA/HuSnJ
000023   FL/1ReJ
000025   FL/4ReJ
003078   FVB-Tg(WapIgf1)39Dlr/J
003024   FVB.129P2(B6)-Fmr1tm1Cgr/J
002539   FVB.129P2-Abcb4tm1Bor/J
002935   FVB.129S2(B6)-Ccnd1tm1Wbg/J
002953   FVB.Cg-Tg(MMTVTGFA)254Rjc/J
003170   FVB.Cg-Tg(Myh6-tTA)6Smbf/J
003257   FVB/N-Tg(GFAPGFP)14Mes/J
002374   FVB/N-Tg(MMTV-PyVT)634Mul/J
002856   FVB/N-Tg(TIE2-lacZ)182Sato/J
002384   FVB/N-Tg(UcpDta)1Kz/J
001800   FVB/NJ
003487   FVB/NJ-Tg(XGFAP-lacZ)3Mes/J
001491   FVB/NMob
000734   MOLD/RkJ
000550   MOLF/EiJ
002423   NON/ShiLtJ
000679   P/J
000680   PL/J
100299   PLSJLF1/J
000269   SB/LeJ
005651   SJL.AK-Thy1a/TseJ
000686   SJL/J
000688   ST/bJ
004808   STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
002648   STOCK a/a Cln6nclf/J
000279   STOCK gr +/+ Ap3d1mh/J
005965   STOCK Tg(Pomc1-cre)16Lowl/J
004770   SW.B6-Soab/J
002023   SWR.M-Emv21 Emv22/J
000689   SWR/J
000939   SWR/J-Clcn1adr-mto/J
000692   WB/ReJ KitW/J
100410   WBB6F1/J-KitW/KitW-v/J
000693   WC/ReJ KitlSl/J
100401   WCB6F1/J KitlSl KitlSl-d
View Strains carrying   Pde6brd1     (74 strains)

View Strains carrying other alleles of Pde6b     (8 strains)

Research Applications

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

Pde6brd1 related

Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive

Sensorineural Research
Retinal Degeneration

References

Additional References

Price and Supply Information

Strain Name: C3HeB/FeJ-Eya1bor/J
Stock Number: 002588

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information.
Supply Notes Cryorecovery of Strains Needing Progeny Testing.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent.

Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. 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. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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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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