MGI phenotypes (allele matching)
129S2.Cg-Dsg3bal-Pas/Orl
| Status | Available to order |
| EMMA ID | EM:01161 |
| International strain name | 129S2.Cg-Dsg3bal-Pas/Orl |
| Alternative name | balding-Pasteur |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Dsg3bal-Pas, |
| Gene/Transgene symbol | Dsg3 |
Information from provider
| Provider | Xavier Montagutelli |
| Provider affiliation | Institut Pasteur |
| Genetic information | A 14 bp deletion in exon 13 of the desmoglein 3 (Dsg3) gene, resulting in a frameshift and premature termination codon 7 bp downstream from the site of the deletion. It causes a truncation of the DSG3 polypeptide by 199 amino acids, eliminating virtually all of the intracellular domain. |
| Phenotypic information | Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life. |
| Breeding history | Always maintained on 129S2/SvPas background. Bred by crossing heterozygous mice together or heterozygous by homozygous mutant. |
| References |
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Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Literature references
- Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene.;Pulkkinen Leena, Choi Yoo Won, Simpson Anisha, Montagutelli Xavier, Sundberg John, Uitto Jouni, Mahoney My G, ;2002;The Journal of investigative dermatology;119;1237-43; 12485423
- Vesicle formation and follicular root sheath separation in mice homozygous for deleterious alleles at the balding (bal) locus.;Montagutelli X, Lalouette A, Boulouis H J, Guénet J L, Sundberg J P, ;1997;The Journal of investigative dermatology;109;324-8; 9284099