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Upf1tm1Hcd
Targeted Allele Detail
Summary
Symbol: Upf1tm1Hcd
Name: UPF1 RNA helicase and ATPase; targeted mutation 1, Harry C Dietz
MGI ID: MGI:2386175
Synonyms: Rent-
Gene: Upf1  Location: Chr8:70784175-70805928 bp, - strand  Genetic Position: Chr8, 34.15 cM
Alliance: Upf1tm1Hcd page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67076
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 4 through 6 were replaced with a neomycin selection cassette. Northern blot analysis of MEF cell lines derived from heterozygous mutant mice showed that aberrant transcripts were produced from the targeted allele. RT-PCR and sequencing analysis of the these transcripts identified chimeric transcripts that contained the neo gene as well as splice variants in which exon 3 joined exon 8. In either case, a premature stop codon was introduced immediately downstream of exon 3. (J:67076)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Upf1 Mutation:  56 strains or lines available
References
Original:  J:67076 Medghalchi SM, et al., Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum Mol Genet. 2001 Jan 15;10(2):99-105
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
11/12/2024
MGI 6.24
The Jackson Laboratory