Fras1^rdf
Chemically induced Allele Detail

Summary

• Symbol: Fras1^rdf
• Name: Fraser extracellular matrix complex subunit 1; rounded foot
• MGI ID: MGI:5822820
• Synonyms: Fras1^Q1263*
• Gene: Fras1 Location: Chr5:96521814-96932587 bp, + strand Genetic Position: Chr5, 47.29 cM
• Alliance: Fras1^rdf page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The mutation is a nonsense mutation at base 4645 in exon 30, a sequence that encodes a portion of the chondroitin sulfate proteoglycan (neuron-glial antigen-2) repeat domain of FRAS1. This cytosine to thymine mutation at base 4645 (C4645T) resulted in a change at amino acid 1263 of the encoded protein, changing a glutamine codon to a stop codon. Transcript level was reduced in RNA derived from mutant limb buds. (c.3787C>T, p.Q1263* (NM_175473.3) ) (J:231083)

Disease models

Expression

In Mice Carrying this Mutation:	20 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Fras1 Mutation: 217 strains or lines available

References

• Original: J:231083 Hines EA, et al., Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis. Dev Dyn. 2016 Apr;245(4):497-507
• All: 2 reference(s)