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Klhl18lowf
Spontaneous Allele Detail
Summary
Symbol: Klhl18lowf
Name: kelch-like 18; low frequency
MGI ID: MGI:6470867
Gene: Klhl18  Location: Chr9:110254994-110305762 bp, - strand  Genetic Position: Chr9, 59.92 cM
Alliance: Klhl18lowf page
Mutation
origin
Strain of Origin:  C57BL/6N
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsA spontaneous mutation resulted in the amino acid substitution C to A (g.9:110455454C>A; p.Val55Phe; GRCm38). (J:311444)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Klhl18 Mutation:  36 strains or lines available
References
Original:  J:311444 Ingham NJ, et al., Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss. PLoS One. 2021;16(10):e0258158
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory