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Frem1bat
Chemically induced Allele Detail
Nomenclature
Symbol: Frem1bat
Name: Fras1 related extracellular matrix protein 1; bat
MGI ID: MGI:3526691
Gene: Frem1  Location: Chr4:82897920-83052339 bp, - strand  Genetic Position: Chr4, 39.4 cM
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
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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: 14 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:  3 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory