Strain Name:

B6C3FeF1 a/A-Eya1bor/J

Stock Number:

003301

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Availability:

Cryopreserved - Ready for recovery

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

Former Names B6C3FeF1 a/A-Eya1bor/J    (Changed: 18-FEB-05 )
Type Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Type *F1 Hybrid;
Additional information on Hybrid Strains.
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Specieslaboratory mouse

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.)

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, at F29, backcrossed once to a C3HeB/FeJ male and again maintained by sibling intercrossing. Subsequently this coisogenic mutant subline was backcrossed to a C3HeB/FeJ female at F29N1F5 and maintained by sibling inbreeding. A third backcross to C3HeB/FeJ was done with a male heterozygote at generation F29N1F5N1F3 and the offspring were sibling bred. Between 1998 and 1999 embryos were cryopreserved from C57BL/6J females outcrossed to C3HeB/FeJ heterozygous males at generation F29N3F7 or less. These F1 embryos were subsequently revived and sperm was cryopreserved from heterozygous males.

Related Strains

View Strains carrying   A     (18 strains)

Strains carrying   Eya1bor allele
002588   C3HeB/FeJ-Eya1bor/J
View Strains carrying   Eya1bor     (1 strain)

Strains carrying other alleles of a
002655   Mus pahari/EiJ
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000433   B10.C-H3c H13? A/(28NX)SnJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000423   B10.KR-H13? A/SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Bloc1s6pa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
003879   B10;TFLe-a/a T Itpr3tf/+ Itpr3tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
003759   B6 x B6EiC3Sn a/A-T(10;16)232Dn/J
002071   B6 x B6EiC3Sn a/A-T(11;17)202Dn/J
002113   B6 x B6EiC3Sn a/A-T(11A2;16B3)238Dn/J
002068   B6 x B6EiC3Sn a/A-T(11B1;16B5)233Dn/J
002069   B6 x B6EiC3Sn a/A-T(14E4or5;16B5)225Dn/J
001926   B6 x B6EiC3Sn a/A-T(15;16)198Dn/J
001832   B6 x B6EiC3Sn a/A-T(15E;16B1)60Dn/J
003758   B6 x B6EiC3Sn a/A-T(16C3-4;17A2)65Dn/J
001833   B6 x B6EiC3Sn a/A-T(1C2;16C3)45Dn/J
001903   B6 x B6EiC3Sn a/A-T(6F;18C)57Dn/J
001535   B6 x B6EiC3Sn a/A-T(8A4;12D1)69Dn/J
001831   B6 x B6EiC3Sn a/A-T(8C3;16B5)164Dn/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3-Avy/J
001572   B6.C3-am-J/J
001809   B6.Cg-Aw-J EdaTa-6J +/+ ArTfm/J
000552   B6.Cg-Aw-J EdaTa-6J Sxr
001730   B6.Cg-Aw-J EdaTa-6J Sxrb Hya-/J
000841   B6.Cg-Aw-J EdaTa-By/J
000021   B6.Cg-Ay/J
100409   B6129PF1/J-Aw-J/Aw
014608   B6;129S1-a Kitlsl-24J/GrsrJ
000231   B6;C3Fe a/a-Csf1op/J
004200   B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ
000785   B6;D2-a Ces1ce/EiJ
000505   B6C3 Aw-J/A-Bloc1s5mu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
001750   B6C3Fe a/a-Eif3cXs-J/J
002807   B6C3Fe a/a-Meox2fla/J
000506   B6C3Fe a/a-Qkqk-v/J
000224   B6C3Fe a/a-Scyl1mdf/J
003020   B6C3Fe a/a-Zdhhc21dep/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
000624   B6C3Fe a/a-anx/J
008044   B6C3Fe a/a-bpck/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000065   B6C3Fe a/a-we Pax1un at/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
006450   B6EiC3 a/A-Vss/GrsrJ
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
000557   B6EiC3-+ a/LnpUl A/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001923   B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J
001875   B6EiC3SnF1/J
000638   C3FeB6 A/Aw-J-Sptbn4qv-J/J
000200   C3FeB6 A/Aw-J-Ankank/J
001203   C3FeB6F1/J A/Aw-J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
001886   C3HeB/FeJLe a/a-gnd/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
002468   KK.Cg-Ay/J
000262   LS/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
001427   STOCK Aw us/J
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Pmelsi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000281   STOCK a/a Tmem79ma Flgft/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b Ndc1sks/Tyrp1b +/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
View Strains carrying other alleles of a     (169 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- 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 1; BOR1
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Branchiootic Syndrome 1; BOS1   (EYA1)
Otofaciocervical Syndrome 1; OFC1   (EYA1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Eya1bor/Eya1bor

        C3HeB/FeJ-Eya1bor
  • mortality/aging
  • partial perinatal lethality
    • reduced litter size suggests perinatal lethality occurs probably relating to bilateral kidney agenesis or severe hypoplasia   (MGI Ref ID J:54408)
  • behavior/neurological phenotype
  • circling   (MGI Ref ID J:54408)
  • head bobbing   (MGI Ref ID J:54408)
  • hearing/vestibular/ear phenotype
  • abnormal common crus morphology
    • the common crus which is formed where the superior and posterior semicircular canals meet is incomplete   (MGI Ref ID J:54408)
  • absent organ of Corti
    • the organ of Corti is absent however the pharyngeal pouches are normal   (MGI Ref ID J:54408)
  • deafness   (MGI Ref ID J:54408)
  • decreased cochlear coiling
    • only the basal quarter turn of the cochlea is seen in adults   (MGI Ref ID J:54408)
  • decreased lateral semicircular canal size
    • the lateral semicircular canal is foreshortened with a smaller diameter compared to wild-type mice   (MGI Ref ID J:54408)
  • 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   (MGI Ref ID J:54408)
  • homeostasis/metabolism phenotype
  • increased blood urea nitrogen level
    • increased BUN indicates functional stress from reduced kidney size   (MGI Ref ID J:54408)
  • 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   (MGI Ref ID J:54408)
    • within the hypoplastic kidneys normal cellular morphology is seen   (MGI Ref ID J:54408)
  • single kidney
    • unilateral kidney agenesis is sometimes seen   (MGI Ref ID J:54408)
  • reproductive system phenotype
  • female infertility
    • females do not breed, however homozygous males will sometimes breed   (MGI Ref ID J:54408)

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
      • adult mice exhibit short and disorganized stereocilia bundles that have a loss of polarity   (MGI Ref ID J:140027)
    • decreased cochlear coiling
      • all mice have shortened cochlear   (MGI Ref ID J:140027)
    • decreased outer hair cell stereocilia number
      • some of the outer hair cell bundles are missing in the middle and apical regions   (MGI Ref ID J:140027)
    • increased cochlear inner hair cell number
      • 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)   (MGI Ref ID J:140027)
      • in the apex region, cochleae have many extra hair cells   (MGI Ref ID J:140027)
    • increased cochlear outer hair cell number
      • there is a significant increase in the number of outer hair cells compared to controls   (MGI Ref ID J:140027)
  • abnormal semicircular canal morphology   (MGI Ref ID J:140027)
    • abnormal semicircular canal ampulla morphology
      • all mice at E18.5 have abnormal ampulla, either truncated or absent   (MGI Ref ID J:140027)
      • 13 of 20 mice have at least one ear with an absent anterior ampulla   (MGI Ref ID J:140027)
      • all mice have an absent ampulla in the posterior section   (MGI Ref ID J:140027)
      • all mice have a malformed ampulla in the lateral section   (MGI Ref ID J:140027)
    • decreased posterior semicircular canal size
      • all mice at E18.5 have truncated posterior semicircular canals   (MGI Ref ID J:140027)
    • decreased superior semicircular canal size
      • 13 of 20 mice at E18.5 have truncated anterior semicircular canals   (MGI Ref ID J:140027)
  • abnormal utricle morphology
    • all mice have severely affected utricle   (MGI Ref ID J:140027)
  • abnormal vestibular saccule morphology
    • all mice at E18.5 have malformed saccule   (MGI Ref ID J:140027)
  • 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)   (MGI Ref ID J:140027)
    • there is a similar reduction in the number of hair cells found in the utricle   (MGI Ref ID J:140027)
  • short endolymphatic duct
    • 16 mice of 20 mice at E18.5 have a truncated endolymphatic duct   (MGI Ref ID J:140027)
  • 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   (MGI Ref ID J:140027)
  • decreased outer hair cell stereocilia number
    • some of the outer hair cell bundles are missing in the middle and apical regions   (MGI Ref ID J:140027)
  • 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)   (MGI Ref ID J:140027)
    • there is a similar reduction in the number of hair cells found in the utricle   (MGI Ref ID J:140027)
  • increased cochlear inner hair cell number
    • 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)   (MGI Ref ID J:140027)
    • in the apex region, cochleae have many extra hair cells   (MGI Ref ID J:140027)
  • increased cochlear outer hair cell number
    • there is a significant increase in the number of outer hair cells compared to controls   (MGI Ref ID J:140027)
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Research Applications
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Eya1bor related

Developmental Biology Research
Internal/Organ Defects
      kidney

Internal/Organ Research
Kidney Defects

Neurobiology Research
Hearing Defects

Sensorineural Research
Hearing Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol A
Allele Name wild-type agouti
Allele Type Spontaneous
Common Name(s) dark-bellied agouti;
Strain of Originvarious
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) ASP; As; agouti; agouti signal protein; agouti suppressor;
General Note The A allele is usually regarded as a wild-type allele. The C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.
Molecular Note This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene. [MGI Ref ID J:3523]
 
Allele Symbol Eya1bor
Allele Name branchio otorenal syndrome
Allele Type Spontaneous
Strain of OriginC3HeB/FeJ
Gene Symbol and Name Eya1, eyes absent 1 homolog (Drosophila)
Chromosome 1
Gene Common Name(s) BOP; BOR; BOS1; OFC1; 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

Genotyping Protocols

Eya1bor, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

A related

Blewitt ME; Vickaryous NK; Hemley SJ; Ashe A; Bruxner TJ; Preis JI; Arkell R; Whitelaw E. 2005. An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse. Proc Natl Acad Sci U S A 102(21):7629-34. [PubMed: 15890782]  [MGI Ref ID J:99816]

Bultman SJ; Michaud EJ; Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):1195-204. [PubMed: 1473152]  [MGI Ref ID J:3523]

Bundschuh VG; Madry M. 1988. [atwp mutation in an albino mouse substrain (AB/Hum-1)] Z Versuchstierkd 31(6):249-54. [PubMed: 3227730]  [MGI Ref ID J:16568]

Czyzyk 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]

Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139]  [MGI Ref ID J:30922]

Dry FW. 1928. The agouti coloration of the mouse (Mus Musculus) and the rat (Mus Norvegicus). J Genet 20:131-144.  [MGI Ref ID J:46318]

Dunn LC. 1945. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A 31(11):343-6. [PubMed: 16578176]  [MGI Ref ID J:13122]

Galbraith DB; Wolff GL; Brewer NL. 1979. Tissue microenvironment and the genetic control of hair pigment patterns in mice Dev Genet 1(2):167-179.  [MGI Ref ID J:156092]

Green EL. 1968. . In: Handbook on Genetically Standardized Jax Mice. The Jackson Laboratory, Bar Harbor, ME.  [MGI Ref ID J:36414]

Guido V; and The Mouse Mutant Resource (MMR) at The Jackson Laboratory. 2002. Two new mutations of white bellied agouti, w-46J and w-47J MGI Direct Data Submission :.  [MGI Ref ID J:77218]

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]

Kelly EM. 1957. Beige, bg Mouse News Lett 16:36.  [MGI Ref ID J:29744]

Mather K; North SB. 1940. Umbrous: a case of dominance modification in mice. J Genet 40:229-41.  [MGI Ref ID J:280]

MouseBookTM. 2005. Information obtained from MouseBook<sup>TM</sup>, Medical Research Council Mammalian Genetics Unit, Harwell, UK. Unpublished :.  [MGI Ref ID J:169366]

Perry WL; Copeland NG; Jenkins NA. 1994. The molecular basis for dominant yellow agouti coat color mutations. Bioessays 16(10):705-7. [PubMed: 7980472]  [MGI Ref ID J:21244]

Phillips RJS. 1966. A cis-trans position effect at the A locus of the house mouse. Genetics 54(2):485-95. [PubMed: 5968639]  [MGI Ref ID J:5027]

Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345.  [MGI Ref ID J:13094]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Siracusa LD; Washburn LL; Swing DA; Argeson AC; Jenkins NA; Copeland NG. 1995. Hypervariable yellow (Ahvy), a new murine agouti mutation: Ahvy displays the largest variation in coat color phenotypes of all known agouti alleles. J Hered 86(2):121-8. [PubMed: 7751596]  [MGI Ref ID J:24247]

Eya1bor related

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; 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]

The Jackson Laboratory Office of Genetic Resources. 1983. Registry of Remutation at The Jackson Laboratory, 1983-1984 MGI Direct Data Submission :.  [MGI Ref ID J:79402]

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

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. 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 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 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 (from any location). The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. 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 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 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 (from any location). The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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.


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 Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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