IMPC phenotypes (allele matching)
C57BL/6N-Mab21l4tm1a(KOMP)Wtsi Klhl18lowf/H[cc]
| Status | Available to order |
| EMMA ID | EM:13788 |
| International strain name | C57BL/6N-Mab21l4tm1a(KOMP)Wtsi Klhl18lowf/H[cc] |
| Alternative name | Low frequency hearing loss, Klhl18-lowf |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Mab21l4tm1a(KOMP)Wtsi, Klhl18lowf |
| Gene/Transgene symbol | Mab21l4, Klhl18 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | King |
| Genetic information | A missense variant in the gene Klhl18, g.9:110455454C>A, causing an amino acid change of p.(Val55Phe) (ENSMUST00000068025) |
| Phenotypic information | Homozygous: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 history | After 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 |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
IMPC phenotypes (gene matching)
- increased grip strength / IMPC
- increased bone mineral density / IMPC
- decreased hematocrit / IMPC
- increased circulating magnesium level / IMPC
- decreased erythrocyte cell number / IMPC
- abnormal behavior / IMPC
- decreased circulating creatinine level / IMPC
- decreased circulating serum albumin level / IMPC
- decreased hemoglobin content / IMPC
- abnormal response to new environment / IMPC
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