129P2(Cg)-Lama5tm1.1Mggte/MggteCnrm
| Status | Available to order |
| EMMA ID | EM:11691 |
| International strain name | 129P2(Cg)-Lama5tm1.1Mggte/MggteCnrm |
| Alternative name | Lama5_V3144M |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Lama5tm1.1Mggte, |
| Gene/Transgene symbol | Lama5 |
Information from provider
| Provider | Teresa Esposito |
| Provider affiliation | Institute of Genetics and Biophysics, CNR |
| Genetic information | Targeted mutant mouse model carrying the mutation c. 9430G>A, p. Val3144Met. |
| Phenotypic information | Homozygous:Homozygous mice were viable and fertile and to macroscopic observation showed no apparent sign of the disease. Haematoxylin and eosin staining (HE) of dorsal skin biopsies demonstrated in homozygous mice a simplification of the histo-architecture of the dermal-epidermal interface with flattening of the dermal papillae, suggesting a marked delay in the maturation of the hair follicles. HE of small intestine demonstrated, in the mutant animals, the presence of villi, which appeared inclined with different length and calibre, club-shaped rather than uniformly cylindrical and the columnar cell layer was more discontinuous. Furthermore, the lamina propria along the crypts/villous axis appeared more lax and wider in mutated mice compared to controls. Heterozygous:In heterozygous animals only a mild phenotype was observed. |
| Breeding history | The F1 animals were strictly intercrossed for at least 20 generations. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Literature references
- Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.;Sampaolo Simone, Napolitano Filomena, Tirozzi Alfonsina, Reccia Mafalda Giovanna, Lombardi Luca, Farina Olimpia, Barra Adriano, Cirillo Ferdinando, Melone Mariarosa Anna Beatrice, Gianfrancesco Fernando, Iorio Giuseppe Di, Esposito Teresa, ;2017;Journal of medical genetics;54;710-720; 28735299