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Pex7tm1Nbra
Targeted Allele Detail
Nomenclature
Symbol: Pex7tm1Nbra
Name: peroxisomal biogenesis factor 7; targeted mutation 1, Nancy Braverman
MGI ID: MGI:4443125
Gene: Pex7  Location: Chr10:19860090-19907674 bp, - strand  Genetic Position: Chr10, 9.16 cM, cytoband A3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:158845
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsA neo cassette was inserted within intron 2 in the reverse orientation. Use of cryptic splice sites within the cassette reduces the amount of wild-type transcript produced. Quantitative RT-PCR analysis detected very low levels of wild-type transcript in brain, liver, kidney, and lung from homozygous mice; thus, this is a hypomorpic allele. (J:158845)
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: 9 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 Pex7 Mutation:  9 strains or lines available
References
Original:  J:158845 Braverman N, et al., A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Mol Genet Metab. 2010 Apr;99(4):408-16
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
07/16/2019
MGI 6.14
The Jackson Laboratory