Fras1^bfb
Chemically induced Allele Detail

Summary

• Symbol: Fras1^bfb
• Name: Fraser extracellular matrix complex subunit 1; blood filled blisters
• MGI ID: MGI:5463442
• Gene: Fras1 Location: Chr5:96521814-96932587 bp, + strand Genetic Position: Chr5, 47.29 cM
• Alliance: Fras1^bfb page

Blood-filled blisters across the eye and the distal hindlimbs in Fras1^bfb/Fras1^bfb 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 details: The 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

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Fras1 Mutation: 216 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)