129(Cg)-Tectatm3.1Gpr/GprH

Status

Available to order

EMMA IDEM:08019
International strain name129(Cg)-Tectatm3.1Gpr/GprH
Alternative nameTecta
Strain typeTargeted Mutant Strains : Point mutation
Allele/Transgene symbolTectatm3.1Gpr
Gene/Transgene symbolTecta

Information from provider

ProviderGuy Richardson
Provider affiliationSchool of Life Sciences, University of Sussex
Genetic informationExon 14 was replaced with one in which a point mutation (G to C) results in the amino acid substitution of serine for cysteine at position 1619 (C1619S); cre-mediated recombination removed the neomycin resistance cassette.
Phenotypic informationHomozygous:
In Tecta/ homozygotes, the tectorial membrane has a 'hump-backed' cross-sectional profile, a much reduced limbal attachment zone and the disruption of the marginal band is exacerbated relative to heterozygotes. High levels of Tecta are detected by immunofluorescence in the tectorial membrane.

Heterozygous:
In heterozygous mice inner ear phenotype shows malformation of the tectorial membrane, auditory brainstem response (ABR) thresholds elevated by 20-30 dB and an enhanced susceptibility to audiogenic seizure at low sound pressure level.
Breeding historyF1 mice from germline transmitting chimera were mated with a cre recombinase deleter line to remove the floxed neomycin resistance cassette and the F2 generation was then outbred to 129SvEv.
References
  • Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.;Legan P Kevin, Goodyear Richard J, Morín Matías, Mencia Angeles, Pollard Hilary, Olavarrieta Leticia, Korchagina Julia, Modamio-Hoybjor Silvia, Mayo Fernando, Moreno Felipe, Moreno-Pelayo Miguel-Angel, Richardson Guy P, ;2014;Human molecular genetics;23;2551-68; 24363064
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

    • Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
    • Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (allele matching)
  • audiogenic seizures / MGI
  • abnormal tectorial membrane morphology / MGI
  • abnormal cochlear hair cell stereociliary bundle morphology / MGI
  • impaired hearing / MGI
  • increased or absent threshold for auditory brainstem response / MGI
  • abnormal Hensen stripe morphology / MGI
  • abnormal tectorial membrane marginal band morphology / MGI
  • abnormal tectorial membrane covernet morphology / MGI
MGI phenotypes (gene matching)
  • audiogenic seizures / MGI
  • abnormal hearing physiology / MGI
  • abnormal otolithic membrane morphology / MGI
  • no phenotypic analysis / MGI
  • enlarged otoliths / MGI
  • decreased otolith number / MGI
  • abnormal tectorial membrane morphology / MGI
  • detached tectorial membrane / MGI
  • abnormal cochlear microphonics / MGI
  • decreased cochlear microphonics / MGI
  • decreased cochlear nerve compound action potential / MGI
  • abnormal hair cell mechanoelectric transduction / MGI
  • abnormal cochlear outer hair cell physiology / MGI
  • abnormal cochlear hair cell stereociliary bundle morphology / MGI
  • abnormal distortion product otoacoustic emission / MGI
  • absent distortion product otoacoustic emissions / MGI
  • hearing/vestibular/ear phenotype / MGI
  • behavior/neurological phenotype / MGI
  • impaired hearing / MGI
  • abnormal otoacoustic response / MGI
  • increased or absent threshold for auditory brainstem response / MGI
  • abnormal Hensen stripe morphology / MGI
  • absent Hensen stripe / MGI
  • abnormal Kimura membrane morphology / MGI
  • abnormal tectorial membrane marginal band morphology / MGI
  • abnormal tectorial membrane covernet morphology / MGI
  • abnormal tectorial membrane striated-sheet matrix morphology / MGI

Literature references

  • Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.;Legan P Kevin, Goodyear Richard J, Morín Matías, Mencia Angeles, Pollard Hilary, Olavarrieta Leticia, Korchagina Julia, Modamio-Hoybjor Silvia, Mayo Fernando, Moreno Felipe, Moreno-Pelayo Miguel-Angel, Richardson Guy P, ;2014;Human molecular genetics;23;2551-68; 24363064

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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