Strain Name:

129S-Slc26a4tm1Egr/AjgJ

Stock Number:

018424

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Pds-/- mice may have applications in studies related to deafness and vestibular dysfunction associtated with Pendred syndrome.

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 Coisogenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
Generation+pN1
Generation Definitions
 
Donating InvestigatorDr. Andrew J. Griffith,   NIDCD/NIH

Description
A neo cassette replaces exon 8 of the solute carrier family 26, member 4 (Slc26a4) gene abolishing gene expression in these Pds-/- mutant mice. A truncated transcript containing part of the neo cassette is detected in kidney RNA. Homozygotes are viable and fertile, but females often cannibalize their litters. The Slc26a4 gene product, pendrin, is an anion transporter expressed in epithelial cells of the thyroid, inner ear, and kidney. Pendrin mutations are associated with an enlarged vestibular aqueduct and Pendred syndrome (PS). Profound deafness is observed in both situations. Symptoms of PS also include an abnormal thyroid phenotype resulting in hypothyroidism and goiters. These Pds-/- mice are completely deaf. They have normal inner ear morphology until E15 when endolymphatic dilation occurs as seen in PS. During the second week after birth, abnormal inner ear morphology is evident, including degeneration of sensory cells, malformation of otoconia and otoconial membranes, and abnormally enlarged cochlear lumen. Half of homozygotes show signs of vestibular dysfunction, including circling, head-tilting, head-bobbing and abnormal reaching responses. Mice have a mild inability to alkalinize urine and notably, have a normal thyroid phenotype.

Development
A targeting vector was designed to replace exon 8 of the solute carrier family 26, member 4 (Slc26a4) gene with a neomycin resistance (neo) cassette in reverse orientation to the gene. The construct was electroporated into 129S6/SvEvTac-derived TC1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts and the resulting chimeric males were bred to 129Sv/Ev females. These mice were bred together to generate a colony of Pds-/- mice. Upon arrival at The Jackson Laboratory, mice were bred to 129S1/SvImJ mice (Stock No. 002448) for at least one generation to establish the colony.

Control Information

  Control
   Wild-type from the colony
   002448 129S1/SvImJ (approximate)
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Slc26a4
006816   BXA7/Pgn-Slc26a4pdsm/J
View Strains carrying other alleles of Slc26a4     (1 strain)

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).
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct;
Pendred Syndrome; PDS
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Slc26a4tm1Egr/Slc26a4+

        involves: 129S6/SvEvTac
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • heterozygotes begin hearing at P12, as expected, with auditory brain stem response thresholds improving daily and reaching nearly adult levels by P15   (MGI Ref ID J:121442)
    • at P10, heterozygotes generate an endocochlear potential which grows significantly with further development (as shown at P15 and P35)   (MGI Ref ID J:121442)
    • consistent with this finding, heterozygotes display normal developmental expression of the K+ channel Kcnj10 in the stria vascularis   (MGI Ref ID J:121442)
    • at all ages (i.e. both before and after the onset of hearing), the endolymphatic pH of heterozygotes is more alkaline than the perilymphatic pH   (MGI Ref ID J:121442)
    • at P10, Ca2+ concentration in endolymph of heterozygotes is lower than Ca2+ concentration in perilymph; during further development, endolymphatic Ca2+ concentration progressively decreases to adult levels   (MGI Ref ID J:121442)
    • at P30-P142, heterozygotes display normal otoconia, with no significant differences in utricular endolymphatic potential (UP) or in utricular endolymphatic pH and [Ca2+] relative to wild-type mice   (MGI Ref ID J:121448)

Slc26a4tm1Egr/Slc26a4tm1Egr

        involves: 129S6/SvEvTac
  • hearing/vestibular/ear phenotype
  • abnormal cochlear endolymph ionic homeostasis
    • at all ages (i.e. both before and after the onset of hearing), the endolymphatic pH of homozygotes is more acidic than the perilymphatic pH   (MGI Ref ID J:121442)
    • no difference in the pH of perilymph or blood between wild-type and homozygous mutant mice is observed   (MGI Ref ID J:121442)
    • in contrast to heterozygotes, endolymphatic Ca2+ concentration in homozygotes is similar to perilymphatic Ca2+ concentration at P10 and progressively increases during further development   (MGI Ref ID J:121442)
    • no difference in the Ca2+ concentration of perilymph or blood between wild-type and homozygous mutant mice is observed   (MGI Ref ID J:121442)
  • abnormal spiral limbus morphology
    • spiral limbus appears flatter than normal   (MGI Ref ID J:101834)
  • abnormal strial basal cell morphology
    • at ~P30, presence of round and oval-shaped openings suggest degeneration of the strial basal cell layer and possible destruction of the basal tight junctional barrier   (MGI Ref ID J:116301)
    • however, basal cells at the top and bottom of stria vascularis form tight junctions with surface epithelial cells   (MGI Ref ID J:101834)
  • abnormal strial intermediate cell morphology
    • at ~P30, homozygotes show signs of degeneration in strial intermediate cells   (MGI Ref ID J:116301)
    • between P7 and P15, intermediate cells are present in stria vascularis, but appear hyperpigmented   (MGI Ref ID J:101834)
  • abnormal strial marginal cell morphology
    • at ~P30, marginal cells fail to exhibit a typical cobblestone pattern and show aberrant shapes and sizes   (MGI Ref ID J:116301)
    • marginal cells appear to form a continuous layer, with an aberrant pattern of tight junctions   (MGI Ref ID J:101834)
  • abnormal vestibular endolymph
    • young adult homozygotes (P30-P142) display a small, but statistically significant, reduction of ~3 mV in utricular endolymphatic potential (UP) relative to wild-type mice   (MGI Ref ID J:121448)
    • abnormal vestibular endolymph ionic homeostasis
      • at P30-P142, homozygotes display a significantly lower pH and higher [Ca2+] in utricular endolymph relative to wild-type or heterozygous mice   (MGI Ref ID J:121448)
      • in addition, utricular endolymphatic [Ca2+] is significantly increased to a level higher than in perilymph, consistent with the presence of altered otoconia   (MGI Ref ID J:121448)
      • however, no significant differences are observed in perilymphatic pH and [Ca2+] relative to control values   (MGI Ref ID J:121448)
  • absent endocochlear potential
    • at ~6 weeks, homozygotes show near absence of a normal EP in both the basal and apical cochlear turns   (MGI Ref ID J:116301)
    • induction of anoxia results in a reduced magnitude of the negative EP value, consistent with a loss of functional hair cells   (MGI Ref ID J:116301)
    • notably, cochlear endolymphatic [K+], as well as utricular potential (UP) and utricular endolymphatic [K+] remain normal   (MGI Ref ID J:116301)
    • no significant differences in perilymphatic or plasma K+ concentrations are observed   (MGI Ref ID J:101834)
    • loss of endocochlear potential is associated with absence of the KCNJ10 K+ channel in stria vascularis but not in spiral ganglia   (MGI Ref ID J:101834)
    • expression of KCNJ10 mRNA is normal in stria vascularis and spiral ganglia of young homozygotes (1-4 months) but significantly reduced in older homozygotes (~12 months)   (MGI Ref ID J:101834)
  • cochlear hair cell degeneration   (MGI Ref ID J:101834)
  • deafness
    • homozygotes fail to develop hearing   (MGI Ref ID J:121442)
  • decreased endocochlear potential
    • at P10, homozygotes generate a small endocochlear potential which is progressively lost during further development   (MGI Ref ID J:121442)
    • consistent with this finding, protein expression of K+ channel Kcnj10 in the stria vascularis is noted at P10 but is progressively lost during further development   (MGI Ref ID J:121442)
  • dilated cochlea
    • adult homozygotes exhibit a dilated cochlea, despite normal postnatal cochlear development and the presence of a well-formed tunnel of Corti   (MGI Ref ID J:116301)
  • dilated endolymphatic duct
    • at ~6 weeks, homozygotes show an increased volume of endolymphatic spaces (i.e. severe endolymphatic hydrops)   (MGI Ref ID J:116301)
  • dilated scala media
    • enlargement of the scala media   (MGI Ref ID J:101834)
  • distended Reissner membrane
    • large bulging of Reissner's membrane   (MGI Ref ID J:101834)
  • enlarged otoliths
    • homozygotes are identified by the presence of one or few very large rhomboedric otoconia in utricular macula   (MGI Ref ID J:101834)
    • at P30-P142, homozygotes display a single giant crystal, presumably CaCO3, instead of normal otoconia in the utricle   (MGI Ref ID J:121448)
  • increased or absent threshold for auditory brainstem response
    • homozygotes lack hearing at all ages tested, as determined by auditory brain stem recordings using click and tone-burst stimuli at 8, 16, and 32 kHz   (MGI Ref ID J:121442)
  • nonsyndromic hearing loss
    • at least on a 129Sv/Ev background, homozygotes display non-syndromic deafness with no evidence of thyroid disease   (MGI Ref ID J:67072)
  • organ of Corti degeneration   (MGI Ref ID J:101834)
    • at ~6 weeks, homozygotes display severe degeneration of the organ of Corti   (MGI Ref ID J:116301)
  • sensorineural hearing loss   (MGI Ref ID J:116301)
  • small scala tympani
    • at ~6 weeks, homozygotes typically exhibit a significantly smaller scala tympani   (MGI Ref ID J:116301)
  • stria vascularis degeneration
    • at ~P30, homozygotes display signs of stria vascularis degeneration   (MGI Ref ID J:116301)
    • degeneration of stria vascularis, as evidenced by hyperpigmentation (suggesting unalleviated free radical damage) and an irregular pattern of tight junctions in marginal cells   (MGI Ref ID J:101834)
  • thin spiral ligament
    • at ~6 weeks, homozygotes show a severe reduction of the spiral ligament in the lateral wall of the cochlea   (MGI Ref ID J:116301)
    • spiral prominence is less prominent and spiral ligament is thinner than normal   (MGI Ref ID J:101834)
  • thin stria vascularis
    • at ~6 weeks, homozygotes display a significantly thinned stria vascularis (~2/3 of wild-type thickness)   (MGI Ref ID J:116301)
  • type I spiral ligament fibrocyte degeneration
    • apparent loss of type I fibrocytes   (MGI Ref ID J:101834)
  • type II spiral ligament fibrocyte degeneration
    • apparent loss of type II fibrocytes   (MGI Ref ID J:101834)
  • pigmentation phenotype
  • abnormal strial intermediate cell morphology
    • at ~P30, homozygotes show signs of degeneration in strial intermediate cells   (MGI Ref ID J:116301)
    • between P7 and P15, intermediate cells are present in stria vascularis, but appear hyperpigmented   (MGI Ref ID J:101834)
  • endocrine/exocrine gland phenotype
  • *normal* endocrine/exocrine gland phenotype
    • at least a 129Sv/Ev background, homozygotes exhibit no signs of overt hypothyroidism at any age up to 2 years; standard serum thyroid function tests are normal   (MGI Ref ID J:67072)
    • thyroid morphology and function are normal   (MGI Ref ID J:139883)
  • nervous system phenotype
  • cochlear hair cell degeneration   (MGI Ref ID J:101834)
  • homeostasis/metabolism phenotype
  • abnormal calcium ion homeostasis
    • endolymphatic acidification causes inhibition of Ca2+ reabsorption from the vestibular endolymph via the acid-sensitive Ca2+ channels Trpv5 and Trpv6; as a result, the endolymphatic Ca2+ concentration is progressively increased   (MGI Ref ID J:121442)
    • vestibular dysfunction is partly attributed to a pathological elevation of utricular endolymphatic [Ca2+] due to luminal acidification and consequent inhibition of TRPV5/6-mediated Ca2+ absorption   (MGI Ref ID J:121448)
  • behavior/neurological phenotype
  • circling   (MGI Ref ID J:121448)
  • head tilt   (MGI Ref ID J:121448)
  • skeleton phenotype
  • thin spiral ligament
    • at ~6 weeks, homozygotes show a severe reduction of the spiral ligament in the lateral wall of the cochlea   (MGI Ref ID J:116301)
    • spiral prominence is less prominent and spiral ligament is thinner than normal   (MGI Ref ID J:101834)
  • type I spiral ligament fibrocyte degeneration
    • apparent loss of type I fibrocytes   (MGI Ref ID J:101834)
  • type II spiral ligament fibrocyte degeneration
    • apparent loss of type II fibrocytes   (MGI Ref ID J:101834)

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

Slc26a4tm1Egr/Slc26a4tm1Egr

        either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Black Swiss)
  • behavior/neurological phenotype
  • abnormal gait
    • gait unsteadiness evident upon beginning to walk   (MGI Ref ID J:67072)
  • absent pinna reflex
    • failed to exhibit a Preyer's reflex to a loud clap   (MGI Ref ID J:67072)
  • circling
    • profound circling behavior at 3 weeks of age   (MGI Ref ID J:67072)
  • head bobbing
    • pronounced head bobbing at 3 weeks of age   (MGI Ref ID J:67072)
  • head tilt
    • pronounced head tilting at 3 weeks of age   (MGI Ref ID J:67072)
  • impaired coordination
    • impairment on a rotarod test   (MGI Ref ID J:67072)
  • hearing/vestibular/ear phenotype
  • abnormal inner ear morphology
    • defects detectable at E15   (MGI Ref ID J:67072)
    • abnormal otolithic membrane morphology
      • destruction of the otoconial membrane   (MGI Ref ID J:67072)
      • absent otoliths
        • almost complete absence of otoconia   (MGI Ref ID J:67072)
      • enlarged otoliths
        • at P30, occasional presence of giant otoconia, when present   (MGI Ref ID J:67072)
    • abnormal semicircular canal morphology
      • some mice develop dilated semicircular canals   (MGI Ref ID J:67072)
    • cochlear inner hair cell degeneration
      • inner hair cell degeneration starting between P7 and P15, with variation among different cochleas as well as areas of the same cochlea   (MGI Ref ID J:67072)
    • cochlear outer hair cell degeneration
      • outer hair cell degeneration starting between P7 and P15, with considerable variation among different cochleas as well as areas of the same cochlea   (MGI Ref ID J:67072)
    • dilated cochlea
      • dilated cochlea observed at E15.5-E16.5   (MGI Ref ID J:67072)
    • dilated endolymphatic duct
      • dilated endolymphatic duct starting at E15   (MGI Ref ID J:67072)
    • dilated endolymphatic sac
      • dilated endolymphatic sac starting at E15   (MGI Ref ID J:67072)
    • dilated scala media
      • dilated scala media at P1   (MGI Ref ID J:67072)
    • distended Reissner membrane
      • bulging due to dilation of scala media observed at P1   (MGI Ref ID J:67072)
    • enlarged vestibular saccule
      • dilated saccule observed at E15.5-E16.5   (MGI Ref ID J:67072)
    • fused inner hair cell stereocilia
      • in some cases, IHC degeneration is associated with enlarged stereocilia   (MGI Ref ID J:67072)
    • utricular macular degeneration   (MGI Ref ID J:67072)
    • vestibular saccular macula degeneration   (MGI Ref ID J:67072)
  • abnormal vestibular system physiology
    • ~50% of homozygotes exhibit various signs of vestibular dysfunction, including habitual circling behaviour, head-tilting and head-bobbing and/or an abnormal reaching response   (MGI Ref ID J:67072)
    • vestibular dysfunction shows variable expressivity with respect to its presence, features and severity, but not age of onset   (MGI Ref ID J:67072)
  • deafness
    • at P28-P42, homozygotes show no characteristic ABR waveforms at intensities up to 100 dB SPL and with all four test stimuli, indicating complete hearing loss   (MGI Ref ID J:67072)
  • increased or absent threshold for auditory brainstem response
    • failed to show characteristic waveforms by auditory-evoked brainstem response analyses   (MGI Ref ID J:67072)
  • sensorineural hearing loss   (MGI Ref ID J:67072)
  • nervous system phenotype
  • cochlear inner hair cell degeneration
    • inner hair cell degeneration starting between P7 and P15, with variation among different cochleas as well as areas of the same cochlea   (MGI Ref ID J:67072)
  • cochlear outer hair cell degeneration
    • outer hair cell degeneration starting between P7 and P15, with considerable variation among different cochleas as well as areas of the same cochlea   (MGI Ref ID J:67072)
  • fused inner hair cell stereocilia
    • in some cases, IHC degeneration is associated with enlarged stereocilia   (MGI Ref ID J:67072)
View Research Applications

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

Cell Biology Research
Channel and Transporter Defects

Sensorineural Research
Hearing Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Slc26a4tm1Egr
Allele Name targeted mutation 1, Eric D Green
Allele Type Targeted (Null/Knockout)
Common Name(s) Pds-; Slc26a4delta;
Mutation Made By Eric Green,   National Human Genome Research Institute
Strain of Origin129S6/SvEvTac
Gene Symbol and Name Slc26a4, solute carrier family 26, member 4
Chromosome 12
Gene Common Name(s) DFNB4; EVA; PDS; Pds; Pendred syndrome homolog (human); TDH2B; pendrin;
Molecular Note Exon 8 was replaced with a neomycin selection cassette via homologous recombination. While, normal transcript was undetected by RT-PCR and Northern blot analyses of total kidney RNA isolated from homozygous mutant mice, RT-PCR revealed the presence of anaberrant transcript containing a portion of the neo cassette. [MGI Ref ID J:67072]

Genotyping

Genotyping Information

Genotyping Protocols

Generic Neo Melt Curve Analysis, Melt Curve Analysis
Slc26a4tm1Egr, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Everett LA; Belyantseva IA; Noben-Trauth K; Cantos R; Chen A; Thakkar SI; Hoogstraten-Miller SL; Kachar B; Wu DK; Green ED. 2001. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10(2):153-61. [PubMed: 11152663]  [MGI Ref ID J:67072]

Additional References

Slc26a4tm1Egr related

Blomqvist SR; Vidarsson H; Fitzgerald S; Johansson BR; Ollerstam A; Brown R; Persson AE; Bergstrom G G; Enerback S. 2004. Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1. J Clin Invest 113(11):1560-70. [PubMed: 15173882]  [MGI Ref ID J:90907]

Choi BY; Kim HM; Ito T; Lee KY; Li X; Monahan K; Wen Y; Wilson E; Kurima K; Saunders TL; Petralia RS; Wangemann P; Friedman TB; Griffith AJ. 2011. Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest 121(11):4516-25. [PubMed: 21965328]  [MGI Ref ID J:178462]

Frank H; Groger N; Diener M; Becker C; Braun T; Boettger T. 2008. Lactaturia and loss of sodium-dependent lactate uptake in the colon of SLC5A8-deficient mice. J Biol Chem 283(36):24729-37. [PubMed: 18562324]  [MGI Ref ID J:139883]

Ito T; Li X; Kurima K; Choi BY; Wangemann P; Griffith AJ. 2014. Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction. Neurobiol Dis 66:53-65. [PubMed: 24561068]  [MGI Ref ID J:212027]

Karniski LP; Wang T; Everett LA; Green ED; Giebisch G; Aronson PS. 2002. Formate-stimulated NaCl absorption in the proximal tubule is independent of the pendrin protein. Am J Physiol Renal Physiol 283(5):F952-6. [PubMed: 12372770]  [MGI Ref ID J:113624]

Kim HM; Wangemann P. 2010. Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression. PLoS One 5(11):e14041. [PubMed: 21103348]  [MGI Ref ID J:166987]

Kim YH; Verlander JW; Matthews SW; Kurtz I; Shin W; Weiner ID; Everett LA; Green ED; Nielsen S; Wall SM. 2005. Intercalated cell H+/OH- transporter expression is reduced in Slc26a4 null mice. Am J Physiol Renal Physiol 289(6):F1262-72. [PubMed: 16144965]  [MGI Ref ID J:102455]

Li X; Sanneman JD; Harbidge DG; Zhou F; Ito T; Nelson R; Picard N; Chambrey R; Eladari D; Miesner T; Griffith AJ; Marcus DC; Wangemann P. 2013. SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice. PLoS Genet 9(7):e1003641. [PubMed: 23874234]  [MGI Ref ID J:199292]

Li X; Zhou F; Marcus DC; Wangemann P. 2013. Endolymphatic Na(+) and K(+) concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin. PLoS One 8(5):e65977. [PubMed: 23741519]  [MGI Ref ID J:200823]

Nakagami Y; Favoreto S Jr; Zhen G; Park SW; Nguyenvu LT; Kuperman DA; Dolganov GM; Huang X; Boushey HA; Avila PC; Erle DJ. 2008. The epithelial anion transporter pendrin is induced by allergy and rhinovirus infection, regulates airway surface liquid, and increases airway reactivity and inflammation in an asthma model. J Immunol 181(3):2203-10. [PubMed: 18641360]  [MGI Ref ID J:139225]

Nakaya K; Harbidge DG; Wangemann P; Schultz BD; Green ED; Wall SM; Marcus DC. 2007. Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels. Am J Physiol Renal Physiol 292(5):F1314-21. [PubMed: 17200157]  [MGI Ref ID J:121448]

Pech V; Pham TD; Hong S; Weinstein AM; Spencer KB; Duke BJ; Walp E; Kim YH; Sutliff RL; Bao HF; Eaton DC; Wall SM. 2010. Pendrin modulates ENaC function by changing luminal HCO3-. J Am Soc Nephrol 21(11):1928-41. [PubMed: 20966128]  [MGI Ref ID J:185895]

Pech V; Thumova M; Dikalov SI; Hummler E; Rossier BC; Harrison DG; Wall SM. 2013. Nitric oxide reduces Cl- absorption in the mouse cortical collecting duct through an ENaC-dependent mechanism. Am J Physiol Renal Physiol 304(11):F1390-7. [PubMed: 23515718]  [MGI Ref ID J:197255]

Rossier BC; Staub O; Hummler E. 2013. Genetic dissection of sodium and potassium transport along the aldosterone-sensitive distal nephron: Importance in the control of blood pressure and hypertension. FEBS Lett 587(13):1929-41. [PubMed: 23684652]  [MGI Ref ID J:198739]

Royaux IE; Belyantseva IA; Wu T; Kachar B; Everett LA; Marcus DC; Green ED. 2003. Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. J Assoc Res Otolaryngol 4(3):394-404. [PubMed: 14690057]  [MGI Ref ID J:116301]

Singh R; Wangemann P. 2008. Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. Am J Physiol Renal Physiol 294(1):F139-48. [PubMed: 17959752]  [MGI Ref ID J:130279]

Verlander JW; Hong S; Pech V; Bailey JL; Agazatian D; Matthews SW; Coffman TM; Le T; Inagami T; Whitehill FM; Weiner ID; Farley DB; Kim YH; Wall SM. 2011. Angiotensin II acts through the angiotensin 1a receptor to upregulate pendrin. Am J Physiol Renal Physiol 301(6):F1314-25. [PubMed: 21921024]  [MGI Ref ID J:180021]

Verlander JW; Kim YH; Shin W; Pham TD; Hassell KA; Beierwaltes WH; Green ED; Everett L; Matthews SW; Wall SM. 2006. Dietary Cl- restriction upregulates pendrin expression within the apical plasma membrane of type B intercalated cells. Am J Physiol Renal Physiol 291(4):F833-9. [PubMed: 16670435]  [MGI Ref ID J:112416]

Wangemann P; Itza EM; Albrecht B; Wu T; Jabba SV; Maganti RJ; Lee JH; Everett LA; Wall SM; Royaux IE; Green ED; Marcus DC. 2004. Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. BMC Med 2:30. [PubMed: 15320950]  [MGI Ref ID J:101834]

Wangemann P; Kim HM; Billings S; Nakaya K; Li X; Singh R; Sharlin DS; Forrest D; Marcus DC; Fong P. 2009. Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression. Am J Physiol Renal Physiol 297(5):F1435-47. [PubMed: 19692489]  [MGI Ref ID J:154001]

Wangemann P; Nakaya K; Wu T; Maganti RJ; Itza EM; Sanneman JD; Harbidge DG; Billings S; Marcus DC. 2007. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol 292(5):F1345-53. [PubMed: 17299139]  [MGI Ref ID J:121442]

Yang T; Gurrola JG 2nd; Wu H; Chiu SM; Wangemann P; Snyder PM; Smith RJ. 2009. Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet 84(5):651-7. [PubMed: 19426954]  [MGI Ref ID J:150860]

Yang T; Vidarsson H; Rodrigo-Blomqvist S; Rosengren SS; Enerback S; Smith RJ. 2007. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80(6):1055-63. [PubMed: 17503324]  [MGI Ref ID J:128024]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, heterozygous females may be bred to homozygous males. The donating investigator reports that homozygous females often cannibalize their litters

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* $2525.00
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 - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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* $3283.00
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 - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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.

Control Information

  Control
   Wild-type from the colony
   002448 129S1/SvImJ (approximate)
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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
Technical Support Email Form

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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