Frem1^tm1Ksek
Targeted Allele Detail

Summary

• Symbol: Frem1^tm1Ksek
• Name: Fras1 related extracellular matrix protein 1; targeted mutation 1, Kiyotoshi Sekiguchi
• MGI ID: MGI:3665235
• Synonyms: Qbrick/Frem1^-
• Gene: Frem1 Location: Chr4:82816164-82970576 bp, - strand Genetic Position: Chr4, 39.4 cM
• Alliance: Frem1^tm1Ksek page

Phenotypes and electron microscopy of Frem1^tm1Ksek/Frem1^tm1Ksek mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:111788
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 2, which contains the initiation codon, was replaced with a neomycin resistance gene via homologous recombination. Immunohistochemistry confirms absence of protein at the basement membrane zone of skin. (J:111788)

Disease models

Expression

In Mice Carrying this Mutation:	56 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Frem1 Mutation: 117 strains or lines available

References

• Original: J:111788 Kiyozumi D, et al., Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):11981-6
• All: 4 reference(s)