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Pus1tm1.1Mdf
Targeted Allele Detail
Nomenclature
Symbol: Pus1tm1.1Mdf
Name: pseudouridine synthase 1; targeted mutation 1.1, Mark D Fleming
MGI ID: MGI:5811315
Gene: Pus1  Location: Chr5:110773667-110780659 bp, - strand  Genetic Position: Chr5, 53.7 cM, cytoband F
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:237107
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA targeting vector containing IRES/lacZ sequence and floxed NEO cassette was used to disrupt almost all of exon 3. Cre-mediated recombination removed the floxed neo cassette. The expression of the lacZ has not been examined. Quantitative RT-PCR studies of several tissues did not detect mRNA in homozygous mutant mice. (J:237107)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pus1 Mutation:  10 strains or lines available
References
Original:  J:237107 Mangum JE, et al., Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Sci Rep. 2016 May 20;6:26202
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory