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Del(2Duoxa2-Duoxa1)1Sref
Targeted Allele Detail
Summary
Symbol: Del(2Duoxa2-Duoxa1)1Sref
Name: deletion, Chr 2, Samuel Refetoff 1
MGI ID: MGI:5544489
Synonyms: Del1Sref, Duoxa-, Duoxa1/Duoxa2tm1.1Sref
Gene: Del(2Duoxa2-Duoxa1)1Sref  Location: unknown  Genetic Position: Chr2, Syntenic
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:205329
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intergenic deletion, Intragenic deletion
  Del(2Duoxa2-Duoxa1)1Sref involves 2 genes/genome features (Duoxa2, Duoxa1) View all
 
Mutation detailsA self-excising neomycin resistance cassette replaced 2857 bp spanning between exon 5 of Duoxa2 to coding exon 5 of Duoxa1. The final allele lacks the neomycin resistance cassette. Mice lack DUOX-based NADPH oxidase activity. (J:205329)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 8 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 Del(2Duoxa2-Duoxa1)1Sref Mutation:  0 strains or lines available
References
Original:  J:205329 Grasberger H, et al., Mice deficient in dual oxidase maturation factors are severely hypothyroid. Mol Endocrinol. 2012 Mar;26(3):481-92
All:  11 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
04/16/2024
MGI 6.23
The Jackson Laboratory