Pex7^tm1Nbra
Targeted Allele Detail

Summary

• Symbol: Pex7^tm1Nbra
• Name: peroxisomal biogenesis factor 7; targeted mutation 1, Nancy Braverman
• MGI ID: MGI:4443125
• Synonyms: Pex7^neo
• Gene: Pex7 Location: Chr10:19735836-19783420 bp, - strand Genetic Position: Chr10, 9.16 cM, cytoband A3
• Alliance: Pex7^tm1Nbra page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Pex7 Mutation: 17 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: 3 reference(s)