C57BL/6N-Mab21l4tm1a(KOMP)Wtsi Klhl18lowf/H[cc]

Status

Available to order

EMMA IDEM:13788
International strain nameC57BL/6N-Mab21l4tm1a(KOMP)Wtsi Klhl18lowf/H[cc]
Alternative nameLow frequency hearing loss, Klhl18-lowf
Strain typeSpontaneous
Allele/Transgene symbolKlhl18lowf,
Gene/Transgene symbolKlhl18

Information from provider

ProviderKaren Steel
Provider affiliationKing
Genetic informationA missense variant in the gene Klhl18, g.9:110455454C>A, causing an amino acid change of p.(Val55Phe) (ENSMUST00000068025)
Phenotypic informationHomozygous:
Homozygotes for lowf show progressive increase in thresholds for an Auditory Brainstem Response to sounds.

Heterozygous:
No obvious defects, but heterozygotes for lowf do show increased anomalies of stereocilia defects in inner ear hair cells.
Breeding historyAfter arising as a spontaneous mutation, the mutation was maintained for several years by intercrossing within a closed colony on a C57BL/6N background. The original targeted mutation of Mab21l4 (also known as 2310007B03Rik) is present in the colony but does not segregate with the phenotype.
References
  • Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss.;Ingham Neil J, Banafshe Navid, Panganiban Clarisse, Crunden Julia L, Chen Jing, Lewis Morag A, Steel Karen P, ;2021;PloS one;16;e0258158; 34597341
  • 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

Literature references

  • Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss.;Ingham Neil J, Banafshe Navid, Panganiban Clarisse, Crunden Julia L, Chen Jing, Lewis Morag A, Steel Karen P, ;2021;PloS one;16;e0258158; 34597341
  • 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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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*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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