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Pex1tm1.1Sjms
Targeted Allele Detail
Nomenclature
Symbol: Pex1tm1.1Sjms
Name: peroxisomal biogenesis factor 1; targeted mutation 1.1, Steven Steinberg
MGI ID: MGI:5570186
Synonyms: Pex1-G844D
Gene: Pex1  Location: Chr5:3596066-3637232 bp, + strand  Genetic Position: Chr5, 2.26 cM, cytoband A2
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 detailsA 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)
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: 4 anatomical structures
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:  35 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory