Pex1^tm1.1Sjms
Targeted Allele Detail

Summary

• Symbol: Pex1^tm1.1Sjms
• Name: peroxisomal biogenesis factor 1; targeted mutation 1.1, Steven Steinberg
• MGI ID: MGI:5570186
• Synonyms: Pex1-G844D
• Gene: Pex1 Location: Chr5:3646066-3687230 bp, + strand Genetic Position: Chr5, 2.26 cM, cytoband A2
• Alliance: Pex1^tm1.1Sjms page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:210296
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 x C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A targeting vector was designed to insert a loxP site into intron 11, a loxP-FRT-flanked neomycin cassette into intron 13 and a G844D point mutation into exon 15. The mutation results in a G to A change at nucleotide 2531 altering the corresponding amino acid from glycine to aspartic acid at position 844. FLP-mediated recombination removed the FRT-flanked neo cassette. (J:210296)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Pex1 Mutation: 59 strains or lines available

References

• Original: J:210296 Hiebler S, et al., The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Mol Genet Metab. 2014 Apr;111(4):522-32
• All: 4 reference(s)