C3H101H x STOCK Foxp3sf/H
| Status | Available to order |
| EMMA ID | EM:02591 |
| International strain name | C3H101H x STOCK Foxp3sf/H |
| Alternative name | Foxp3 |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Foxp3sf, |
| Gene/Transgene symbol | Foxp3 |
Information from provider
| Provider | Liane B. Russell |
| Provider affiliation | Mammalian Genetics Unit, MRC Harwell |
| Genetic information | Insertion of two adenosine residues into exon 8, resulting in a 2 bp shift in the reading frame. This allele is predicted to produce a truncated protein lacking the carboxy-terminal forkhead domain. |
| Phenotypic information | Heterozygous males can first be recognised at about 11 days of age by a reddening of the genital papilla. They develop scaliness first of the tail and later of other parts of the body. The skin appears tight and the eyelids open late. Scurfy males usually die before or shortly after weaning; survivors are small and sterile. Occasional scurfy females have proved to be X/O and resemble scurfy males. Heterozygous females are indistinguishable from homozygous wild-type females. |
| Breeding history | Outcrossed to C3H/HeH x 101/H |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome / Orphanet_37042
Literature references
- EXCEPTIONAL INHERITANCE OF A SEX-LINKED GENE IN THE MOUSE EXPLAINED ON THE BASIS THAT THE X/O SEX-CHROMOSOME CONSTITUTION IS FEMALE.;Russell W L, Russell L B, Gower J S, ;1959;Proceedings of the National Academy of Sciences of the United States of America;45;554-60; 16590412