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Fras1bfb
Chemically induced Allele Detail
Nomenclature
Symbol: Fras1bfb
Name: Fraser extracellular matrix complex subunit 1; blood filled blisters
MGI ID: MGI:5463442
Gene: Fras1  Location: Chr5:96373955-96784728 bp, + strand  Genetic Position: Chr5, 47.29 cM
Blood-filled blisters across the eye and the distal hindlimbs in Fras1bfb/Fras1bfb embryos

Show the 5 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6JAnu
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Applicable)
Mutation:    Single point mutation
 
Mutation detailsThe mutation has been identified as a T to C transition at position 10762 of the cDNA sequence, in a region derived from exon 69, that substitutes proline for serine at amino acid position 3588 (S3588P). Western blot analysis confirmed correct levels of protein expression. Immunohistochemistry confirmed the protein does not correctly localize to the basal membrane. (J:199856)
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: 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 Fras1 Mutation:  133 strains or lines available
References
Original:  J:199856 Caruana G, et al., Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. PLoS One. 2013;8(3):e55429
All:  2 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
09/10/2019
MGI 6.14
The Jackson Laboratory