About   Help   FAQ
Frem1bat
Chemically induced Allele Detail
Summary
Symbol: Frem1bat
Name: Fras1 related extracellular matrix protein 1; bat
MGI ID: MGI:3526691
Gene: Frem1  Location: Chr4:82816164-82970576 bp, - strand  Genetic Position: Chr4, 39.4 cM
Alliance: Frem1bat page
Frem1bat/Frem1bat mice display crytophthalmos and embryonic blebbing

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

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation is a T to C transition at position +2 in the splice donor of intron 25, a highly conserved residue in mammalian splice sites. RT-PCR shows complete skipping of exon 25, which led to a frame shift and the introduction of a premature stop codon 36 bp into exon 26 and therefore the truncation of the protein toward the C-terminal end of the CSPG repeat elements. (J:92613)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 13 anatomical structure(s)
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 Frem1 Mutation:  117 strains or lines available
References
Original:  J:92613 Smyth I, et al., The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13560-5
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory