Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Fbn1tm3.2Lysa
- Species
- Mus musculus
- Symbol
- Fbn1tm3.2Lysa
- Category
- allele
- Allele of gene
- Fbn1
- Transgenic Constructs
- None
- Synonyms
- Fbn1WMdelta
- Description
- Cre-mediated recombination removed the neo cassette and exons 10 and 11. This mutation mimics the one identified in human patients with Weill-Marchesani syndrome (WMS).
- Additional Information
- Literature
Phenotypes
Phenotype | Annotation details | Source | References |
|---|---|---|---|
| abnormal dermal layer morphology | MGI | ||
| abnormal skin morphology | MGI | ||
| brachyphalangia | MGI | ||
| decreased length of long bones | MGI | ||
| decreased subcutaneous adipose tissue amount | MGI | ||
| short metacarpal bones | MGI | ||
| short radius | MGI | ||
| short tibia | MGI | ||
| short ulna | MGI | ||
| thick dermal layer | MGI |
Disease Associations
Association | Disease Qualifier | Disease | Annotation details | Evidence | Source | References |
|---|---|---|---|---|---|---|
| is NOT implicated in | Marfan syndrome |
| ||||
| is implicated in | Weill-Marchesani syndrome |
|
Showing 1 - 2 of 2 rows
per page