MGI phenotypes (allele matching)
129S2.Cg-Dsg3bal-Pas/Orl
| Status | Available to order |
| EMMA ID | EM:01161 |
| Citation information | RRID:IMSR_EM:01161 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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
MGI allele-associated human disease models
MGI phenotypes (gene matching)
- increased neutrophil cell number / MGI
- increased mast cell number / MGI
- abnormal hair follicle morphology / MGI
- alopecia / MGI
- sparse hair / MGI
- focal hair loss / MGI
- abnormal hair cycle / MGI
- abnormal tongue morphology / MGI
- blistering / MGI
- skin lesions / MGI
- thick epidermis / MGI
- absent suprabasal layer / MGI
- abnormal epidermis stratum spinosum morphology / MGI
- decreased body weight / MGI
- weight loss / MGI
- decreased body size / MGI
- postnatal growth retardation / MGI
- conjunctivitis / MGI
- female infertility / MGI
- respiratory distress / MGI
- abnormal hair growth / MGI
- abnormal respiratory system morphology / MGI
- abnormal larynx morphology / MGI
- abnormal laryngeal cartilage morphology / MGI
- abnormal tracheal ciliated epithelium morphology / MGI
- increased susceptibility to infection / MGI
- increased IgE level / MGI
- abnormal keratinocyte physiology / MGI
- abnormal cell adhesion / MGI
- mouth mucosal ulcer / MGI
- abnormal hair shaft morphology / MGI
- acantholysis / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell number / MGI
- decreased double-positive T cell number / MGI
- premature hair loss / MGI
- cachexia / MGI
- decreased circulating leptin level / MGI
- decreased single-positive T cell number / MGI
- decreased transitional stage B cell number / MGI
- decreased pre-B cell number / MGI
- decreased immature B cell number / MGI
- decreased subcutaneous adipose tissue amount / MGI
- meteorism / MGI
- thick epidermis stratum spinosum / MGI
- thin epidermis stratum granulosum / MGI
- decreased total body fat amount / MGI
- abnormal thoracic cage shape / MGI
- abnormal epiglottis morphology / MGI
- lethality at weaning, incomplete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- stridor / MGI
- abnormal subglottis morphology / MGI
- subglottis stenosis / MGI
- oral mucosa blisters / MGI
- abnormal snout skin morphology / MGI
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