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Pex1tm1.1Hrw
Targeted Allele Detail
Summary
Symbol: Pex1tm1.1Hrw
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: Pex1tm1.1Hrw 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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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:  41 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)

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
01/31/2023
MGI 6.22
The Jackson Laboratory