IMPC phenotypes (gene matching)
C57BL/6N-Lama5tm1c(KOMP)Wtsi/H
| Status | Available to order |
| EMMA ID | EM:10466 |
| International strain name | C57BL/6N-Lama5tm1c(KOMP)Wtsi/H |
| Alternative name | EPD0179_1_C10 |
| Strain type | Targeted Mutant Strains : Targeted Conditional |
| Allele/Transgene symbol | Lama5tm1c(KOMP)Wtsi |
| Gene/Transgene symbol | Lama5 |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This line originates from KOMP ES clone EPD0179_1_C10, after breeding with a Flp recombinase deleter line to convert the original targeted allele tm1a (knock-out first allele) into a conditional allele tm1c. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Animals used for archiving | heterozygous C57BL/6NTac |
| Breeding at archiving centre | This mutation was generated on a coisogenic C57BL/6NTac background |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- LAMA5-related multisystemic syndrome / Orphanet_521450
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