C57BL/6N-S1pr2stdf/WtsiOulu

Status

Available to order

EMMA IDEM:10854
International strain nameC57BL/6N-S1pr2stdf/WtsiOulu
Alternative nameC57BL/6N Stonedeaf mutation
Strain typeSpontaneous
Allele/Transgene symbolstdf
Gene/Transgene symbolS1pr2

Information from provider

ProviderKaren Steel
Provider affiliationCentre for Age-Related Diseases, King
Additional ownerWellcome Trust Sanger Institute
Genetic informationThis mutation is a G>C transition in the S1pr2 gene, resulting in a threonine to arginine change (T289R).
Phenotypic informationHomozygous:
These mutants show an early-onset, rapidly-progressive hearing loss, with Auditory Brainstem Response thresholds increasing from two weeks onwards. No other features were detected.

Heterozygous:
No detected phenotype in heterozygotes.
Breeding historyThe mutation arose spontaneously during targeting of a separate gene (Mms22l). The frozen embryos carrying the stonedeaf mutation do not carry the targeted Mms22l mutation as this was bred out of the line prior to producing embryos for freezing.
References
  • Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.;Lewis Morag A, Ingham Neil J, Chen Jing, Pearson Selina, Di Domenico Francesca, Rekhi Sohinder, Allen Rochelle, Drake Matthew, Willaert Annelore, Rook Victoria, Pass Johanna, Keane Thomas, Adams David J, Tucker Abigail S, White Jacqueline K, Steel Karen P, ;2022;BMC biology;20;67; 35296311
  • S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse.;Ingham Neil J, Carlisle Francesca, Pearson Selina, Lewis Morag A, Buniello Annalisa, Chen Jing, Isaacson Rivka L, Pass Johanna, White Jacqueline K, Dawson Sally J, Steel Karen P, ;2016;Scientific reports;6;28964; 27383011
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreUniversity of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
MGI phenotypes (gene matching)
  • organ of Corti degeneration / MGI
  • abnormal stria vascularis morphology / MGI
  • impaired swimming / MGI
  • decreased litter size / MGI
  • deafness / MGI
  • increased B cell derived lymphoma incidence / MGI
  • seizures / MGI
  • premature death / MGI
  • abnormal CNS synaptic transmission / MGI
  • abnormal nervous system electrophysiology / MGI
  • abnormal spleen germinal center morphology / MGI
  • abnormal spleen marginal zone morphology / MGI
  • cochlear ganglion degeneration / MGI
  • abnormal excitatory postsynaptic currents / MGI
  • abnormal cell migration / MGI
  • enlarged otoliths / MGI
  • decreased otolith number / MGI
  • abnormal tectorial membrane morphology / MGI
  • abnormal tumor morphology / MGI
  • nervous system phenotype / MGI
  • increased tumor growth/size / MGI
  • tonic-clonic seizures / MGI
  • abnormal Rosenthal canal morphology / MGI
  • vestibular saccular degeneration / MGI
  • cochlear hair cell degeneration / MGI
  • thin stria vascularis / MGI
  • abnormal strial basal cell morphology / MGI
  • abnormal strial marginal cell morphology / MGI
  • abnormal strial intermediate cell morphology / MGI
  • abnormal stria vascularis vasculature morphology / MGI
  • cochlear outer hair cell degeneration / MGI
  • abnormal vestibular labyrinth morphology / MGI
  • absent distortion product otoacoustic emissions / MGI
  • abnormal vestibular system physiology / MGI
  • otosclerosis / MGI
  • abnormal brain wave pattern / MGI
  • increased B cell number / MGI
  • increased T cell number / MGI
  • increased B cell proliferation / MGI
  • head tilt / MGI
  • cardiovascular system phenotype / MGI
  • abnormal action potential / MGI
  • increased angiogenesis / MGI
  • detached Reissner membrane / MGI
  • absent startle reflex / MGI
  • increased lung tumor incidence / MGI
  • increased germinal center B cell number / MGI
  • small scala media / MGI
  • increased spleen germinal center number / MGI
  • increased spleen germinal center size / MGI
  • decreased B cell apoptosis / MGI
  • abnormal tumor vascularization / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • increased or absent threshold for auditory brainstem response / MGI

Literature references

  • Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.;Lewis Morag A, Ingham Neil J, Chen Jing, Pearson Selina, Di Domenico Francesca, Rekhi Sohinder, Allen Rochelle, Drake Matthew, Willaert Annelore, Rook Victoria, Pass Johanna, Keane Thomas, Adams David J, Tucker Abigail S, White Jacqueline K, Steel Karen P, ;2022;BMC biology;20;67; 35296311
  • S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse.;Ingham Neil J, Carlisle Francesca, Pearson Selina, Lewis Morag A, Buniello Annalisa, Chen Jing, Isaacson Rivka L, Pass Johanna, White Jacqueline K, Dawson Sally J, Steel Karen P, ;2016;Scientific reports;6;28964; 27383011

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Order

Availabilities

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

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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