Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:67076
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	54 strains or lines available

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)