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Targeted Allele Detail
Symbol: Frem1tm1Ksek
Name: Fras1 related extracellular matrix protein 1; targeted mutation 1, Kiyotoshi Sekiguchi
MGI ID: MGI:3665235
Synonyms: Qbrick/Frem1-
Gene: Frem1  Location: Chr4:82816157-82970576 bp, - strand  Genetic Position: Chr4, 39.4 cM
Phenotypes and electron microscopy of Frem1tm1Ksek/Frem1tm1Ksek mice

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

Germline Transmission:  Earliest citation of germline transmission: J:111788
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 56 assay results
In Structures Affected by this Mutation: 5 anatomical structures
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:  66 strains or lines available
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)

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
MGI 6.21
The Jackson Laboratory