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Coq8btm1c(EUCOMM)Hmgu
Targeted Allele Detail
Summary
Symbol: Coq8btm1c(EUCOMM)Hmgu
Name: coenzyme Q8B; targeted mutation 1c, Helmholtz Zentrum Muenchen GmbH
MGI ID: MGI:6455494
Synonyms: Adck4flox
Gene: Coq8b  Location: Chr7:26932448-26957375 bp, + strand  Genetic Position: Chr7, 15.85 cM, cytoband A3
Alliance: Coq8btm1c(EUCOMM)Hmgu page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:294296
Parent Cell Line:  JM8A3.N1 (ES Cell)
Strain of Origin:  C57BL/6N-Atm1Brd
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsThe L1L2_Bact_P cassette was inserted at position 26938245 of Chromosome 7 upstream of exon 5 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of exon 6 at position 26939943. Exons 5 and 6 are thus flanked by loxP sites. A "conditional ready" (floxed) allele was created by flp recombinase expression in mice carrying this allele. (J:294296)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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 Coq8b Mutation:  30 strains or lines available
References
Original:  J:294296 Widmeier E, et al., ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment. J Am Soc Nephrol. 2020 Jun;31(6):1191-1211
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
12/10/2024
MGI 6.24
The Jackson Laboratory