| Primary Identifier | MGI:2671826 | Allele Type | Chemically induced (ENU) |
| Gene | Frem1 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false | Project Collection | Mutagenesis for Dev. Defects |
| molecularNote | 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. |
