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Klhl6m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Klhl6m1Btlr
Name: kelch-like 6; mutation 1, Bruce Beutler
MGI ID: MGI:6200013
Synonyms: cerulean
Gene: Klhl6  Location: Chr16:19765242-19801766 bp, - strand  Genetic Position: Chr16, 12.32 cM
Alliance: Klhl6m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced C to T transition at base pair 19,957,218 (v38) on chromosome 16, or base pair 25,832 in the GenBank genomic region NC_000082 encoding Klhl6. The mutation corresponds to residue 635 in the mRNA sequence NM_183390 within exon 3 of 7 total exons. The mutation results in substitution of glutamine 197 for a premature stop codon (Q197*) in the KLHL6 protein. (J:265167)
Inheritance:    Recessive
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
 
Phenotypes:
Affected Systems
show or hide all annotated terms
 
hematopoietic system
increased B-1b cell number
decreased B cell number
decreased central memory CD4-positive, alpha-beta T cell number
increased T cell number
increased CD4-positive, alpha-beta T cell number
increased single-positive T cell number
immune system
increased B-1b cell number
decreased B cell number
decreased central memory CD4-positive, alpha-beta T cell number
increased T cell number
increased CD4-positive, alpha-beta T cell number
increased single-positive T cell number
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Klhl6 Mutation:  48 strains or lines available
References
Original:  J:265167 Choi JH, et al., Mutagenetix entry for cerulean. MGI Direct Data Submission. 2018;
All:  1 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
12/17/2024
MGI 6.24
The Jackson Laboratory

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