C57BL/6N-Atm1Brd Espnspdz Slc35f2tm1a(EUCOMM)Wtsi/WtsiH[cc]

Status

Available to order

EMMA IDEM:13796
International strain nameC57BL/6N-Atm1Brd Espnspdz Slc35f2tm1a(EUCOMM)Wtsi/WtsiH[cc]
Alternative nameSpindizzy, Espn-spdz
Strain typeTargeted Mutant Strains
Allele/Transgene symbolSlc35f2tm1a(EUCOMM)Wtsi, Espnspdz
Gene/Transgene symbolSlc35f2, Espn

Information from provider

ProviderKaren Steel
Provider affiliationKing
Genetic informationWe were unable to amplify a 431bp region in the intron between exons 15 and 16, between g.4:152122586 and g.4:152123017, suggesting that there may be an insertion or other genomic disruption at this location of the chromosome.
Phenotypic informationHomozygous:
Mice homozygous for this mutation displayed circling and head bobbing and had no response to sound up to 95dB SPL, associated with stereocilia defects of the inner ear hair cells.

Heterozygous:
No obvious defect.
Breeding historyThe spindizzy mutation arose in a colony carrying the Slc35f2tm1a(EUCOMM)Wtsi targeted mutation, and this allele may still be in the background. The spindizzy mutation was maintained within a closed colony on a C57BL/6N-Atm1Brd background over several years.
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
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

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

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • lipid deposition / IMPC
  • absent pinna reflex / IMPC
MGI phenotypes (gene matching)
  • abnormal inner ear morphology / MGI
  • abnormal inner ear vestibule morphology / MGI
  • abnormal organ of Corti morphology / MGI
  • organ of Corti degeneration / MGI
  • abnormal stria vascularis morphology / MGI
  • tremors / MGI
  • abnormal nursing / MGI
  • abnormal stationary movement / MGI
  • abnormal locomotor behavior / MGI
  • circling / MGI
  • bidirectional circling / MGI
  • abnormal gait / MGI
  • decreased grooming behavior / MGI
  • impaired swimming / MGI
  • impaired balance / MGI
  • abnormal reflex / MGI
  • deafness / MGI
  • abnormal cochlear hair cell morphology / MGI
  • abnormal endocochlear potential / MGI
  • head shaking / MGI
  • decreased vertical activity / MGI
  • abnormal cochlear ganglion morphology / MGI
  • cochlear ganglion degeneration / MGI
  • abnormal otolithic membrane morphology / MGI
  • abnormal response to novelty / MGI
  • abnormal tectorial membrane morphology / MGI
  • detached tectorial membrane / MGI
  • abnormal defecation / MGI
  • abnormal ear physiology / MGI
  • vestibular hair cell degeneration / MGI
  • vestibular saccular macula degeneration / MGI
  • abnormal utricular macula morphology / MGI
  • cochlear hair cell degeneration / MGI
  • cochlear inner hair cell degeneration / MGI
  • cochlear outer hair cell degeneration / MGI
  • abnormal crista ampullaris neuroepithelium morphology / MGI
  • absent cochlear microphonics / MGI
  • absent cochlear nerve compound action potential / MGI
  • abnormal cochlear hair cell stereociliary bundle morphology / MGI
  • decreased cochlear hair cell stereocilia number / MGI
  • short cochlear hair cell stereocilia / MGI
  • thin cochlear hair cell stereocilia / MGI
  • abnormal inner hair cell stereociliary bundle morphology / MGI
  • pillar cell degeneration / MGI
  • abnormal vestibular system physiology / MGI
  • absent linear vestibular evoked potential / MGI
  • reduced linear vestibular evoked potential / MGI
  • increased mean corpuscular hemoglobin / MGI
  • increased hemoglobin content / MGI
  • abnormal hearing electrophysiology / MGI
  • absent pinna reflex / MGI
  • retropulsion / 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

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