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
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