Frem1^crf11
Chemically induced Allele Detail

Summary

• Symbol: Frem1^crf11
• Name: Fras1 related extracellular matrix protein 1; craniofacial 11
• MGI ID: MGI:2671826
• Synonyms: c.1687A.T, crf^m11Jus, p.Ile563Phe
• Gene: Frem1 Location: Chr4:82816164-82970576 bp, - strand Genetic Position: Chr4, 39.4 cM
• Alliance: Frem1^crf11 page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Mutagenesis for Dev. Defects

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. Sequencing of the Frem1 coding region and intron/exon boundaries revealed a homozygous c.1687A.T change in DNA samples from crf11 mice which was not found in DNA from C57BL/6J and 129S6/SvEvTac control mice. This change causes an isoleucine to phenylalanine change (p.Ile563Phe) at a highly conserved amino acid residue in FREM1's third CSPG domain. (J:200175)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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 Frem1 Mutation: 117 strains or lines available

References

• Original: J:85113 Kile BT, et al., Functional genetic analysis of mouse chromosome 11. Nature. 2003 Sep 4;425(6953):81-6
• All: 2 reference(s)