IMPC phenotypes (gene matching)
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 |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI phenotypes (gene matching)
- lowered ear position / MGI
- absent neurocranium / MGI
- abnormal tooth development / MGI
- double outlet right ventricle / MGI
- abnormal head morphology / MGI
- megacephaly / MGI
- abnormal intestine morphology / MGI
- abnormal pulmonary artery morphology / MGI
- abnormal intestinal epithelium morphology / MGI
- absent kidney / MGI
- abnormal kidney development / MGI
- syndactyly / MGI
- abnormal autopod morphology / MGI
- mesocardia / MGI
- abnormal brain development / MGI
- exencephaly / MGI
- incomplete rostral neuropore closure / MGI
- abnormal lung morphology / MGI
- decreased body size / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- abnormal embryo size / MGI
- abnormal placenta morphology / MGI
- thymus hypoplasia / MGI
- premature death / MGI
- abnormal extraembryonic tissue morphology / MGI
- abnormal limb morphology / MGI
- abnormal digit morphology / MGI
- persistent truncus arteriosis / MGI
- dilated renal tubules / MGI
- increased urine protein level / MGI
- small kidney / MGI
- no phenotypic analysis / MGI
- impaired basement membrane formation / MGI
- curly tail / MGI
- enlarged kidney / MGI
- left pulmonary isomerism / MGI
- renal interstitial fibrosis / MGI
- abnormal intestinal goblet cell morphology / MGI
- kidney failure / MGI
- abnormal nervous system morphology / MGI
- small lung / MGI
- kidney cysts / MGI
- absent ureter / MGI
- interrupted aortic arch / MGI
- right aortic arch / MGI
- decreased fetal size / MGI
- abnormal thoracic cavity morphology / MGI
- impaired branching involved in ureteric bud morphogenesis / MGI
- abnormal trophoblast layer morphology / MGI
- hematuria / MGI
- abnormal podocyte morphology / MGI
- abnormal mesangial cell morphology / MGI
- increased circulating creatinine level / MGI
- increased blood urea nitrogen level / MGI
- polycystic kidney / MGI
- abnormal placental labyrinth vasculature morphology / MGI
- abnormal right lung morphology / MGI
- ventricular septal defect / MGI
- atrioventricular septal defect / MGI
- pulmonary artery hypoplasia / MGI
- vascular ring / MGI
- abnormal right subclavian artery morphology / MGI
- abnormal visceral pleura morphology / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- abnormal glomerular capillary morphology / MGI
- abnormal renal glomerulus basement membrane morphology / MGI
- increased kidney apoptosis / MGI
- abnormal glomerular capillary endothelium morphology / MGI
- decreased placental labyrinth size / MGI
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