C57BL/6N-Atm1Brd Isg20tm1a(KOMP)Wtsi Del(18Ctxn3-Ccdc192)1Kcl/WtsiH[cc]

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EMMA IDEM:13794
Citation informationRRID:IMSR_EM:13794 

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International strain nameC57BL/6N-Atm1Brd Isg20tm1a(KOMP)Wtsi Del(18Ctxn3-Ccdc192)1Kcl/WtsiH[cc]
Alternative nameRhythm, Del(18Ctxn3-Ccdc192)1Kcl
Strain typeSpontaneous
Allele/Transgene symbolDel(18Ctxn3-Ccdc192)1Kcl, Isg20tm1a(KOMP)Wtsi
Gene/Transgene symbolDel(18Ctxn3-Ccdc192)1Kcl, Isg20

Information from provider

ProviderKaren Steel
Provider affiliationWolfson Centre for Age-Related Diseases, King
Genetic informationA 303kb deletion on chromosome 18, g.18:57437258_57740507del, covering eight genes, including two protein-coding genes (Ctxn3, Ccdc192), four lncRNA genes, one miRNA and one snRNA.
Phenotypic informationHomozygous:
Mice homozygous for the rhythm allele exhibited complete deafness with circling and head bobbing, suggesting vestibular dysfunction, associated with inner ear malformation.

Heterozygous:
No obvious defect.
Breeding historyThis spontaneous mutation arose in a colony carrying a targeted mutation of Isg20 (Isg20tm1a(KOMP)Wtsi), and the targeted gene may still be present in the background. The Rhythm mutation, which causes the phenotype, has been maintained within a closed colony for several years on a C57BL/6N background.
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 fertilemales only
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

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

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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