Pex1^tm1.1Hrw
Targeted Allele Detail

Summary

• Symbol: Pex1^tm1.1Hrw
• Name: peroxisomal biogenesis factor 1; targeted mutation 1.1, Hans R Waterham
• MGI ID: MGI:6390206
• Synonyms: Pex1-G844D
• Gene: Pex1 Location: Chr5:3646066-3687230 bp, + strand Genetic Position: Chr5, 2.26 cM, cytoband A2
• Alliance: Pex1^tm1.1Hrw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:278655
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: A targeting vector was designed to insert an exon 15 with the G to A mutation at position 2531 coding for the glycine to aspartate substitution at amino acid 844 (G844D) and a puromycin resistance gene flanked by FRT sites in intron 15. The selection maker was removed via Flp-mediated recombination. This is equivalent to the most commonly found mutant allele (G843D) in patients with Zellweger spectrum disorder. (J:278655)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Pex1 Mutation: 59 strains or lines available

References

• Original: J:278655 Berendse K, et al., Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder. Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2774-2787
• All: 1 reference(s)