129(Cg)-Tectatm4.1Gpr/GprH

Status

Available to order

EMMA IDEM:08021
International strain name129(Cg)-Tectatm4.1Gpr/GprH
Alternative nameTecta
Strain typeTargeted Mutant Strains : Point mutation
Allele/Transgene symbolTectatm4.1Gpr,
Gene/Transgene symbolTecta

Information from provider

ProviderGuy Richardson
Provider affiliationSchool of Life Sciences, University of Sussex
Genetic informationExon 17 was replaced with one in which two point mutations (C>T and G>A) results in the amino acid substitutions of phenylalanine for leucine at position 1820 (L1820F) and aspartic acid for glycine at position 1824 (G1824D). Cre-mediated recombination was used to remove the neomycin resistance cassette after correct targeting was confirmed.
Phenotypic informationHomozygous:
In Tecta/ homozygotes the tectorial membrane is completely detached from the spiral limbus and is associated instead with Reissner's membrane. Tecta is readily detectable by immunofluorescence in the detached tectorial membrane.

Heterozygous:
Inner ear phenotype shows malformation of the tectorial membrane, auditory brainstem response (ABR) thresholds elevated by ~30 dB and an enhanced susceptibility to audiogenic seizure at low sound pressure levels.
Breeding historyF1 mice from germline transmitting chimera were mated with a Cre deleter line to remove the floxed neomycin resistance cassette and the F2 generation 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 Kimura membrane 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*

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