Pus1^tm1.1Mdf
Targeted Allele Detail

Summary

• Symbol: Pus1^tm1.1Mdf
• Name: pseudouridine synthase 1; targeted mutation 1.1, Mark D Fleming
• MGI ID: MGI:5811315
• Gene: Pus1 Location: Chr5:110921533-110928523 bp, - strand Genetic Position: Chr5, 53.7 cM, cytoband F
• Alliance: Pus1^tm1.1Mdf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237107
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

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

Disease models

Expression

In Mice Carrying this Mutation:	6 RNA-Seq or microarray experiment(s)
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: 1 strain available Cell Lines: 0 lines available
• Carrying any Pus1 Mutation: 26 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)