IMPC phenotypes (gene matching)
B6OlaHsd;129-Plod3tm2Rmyl/Oulu
| Status | Available to order |
| EMMA ID | EM:08222 |
| Citation information | RRID:IMSR_EM:08222 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 | B6OlaHsd;129-Plod3tm2Rmyl/Oulu |
| Alternative name | Plod3tm2Rmyl |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Plod3tm2Rmyl |
| Gene/Transgene symbol | Plod3 |
Information from provider
| Provider | Heli Ruotsalaienn |
| Provider affiliation | Faculty of Biochemistry and Molecular medicine, University of Oulu |
| Additional owner | Prof. Raili Myllylä, Univerisity of Oulu, Oulu, Finland |
| Genetic information | Heterozygous. An Asp669Ala mutation was introduced into exon 18 along with a floxed neo cassette in intron 18. This allele is a hypomorph. |
| Phenotypic information | Homozygous:Partial embryo lethality in organogenesis: begin to die around E9.5, loss of embryos continues through E14.5, with a mouse surviving to birth but dying shortly after. Impaired basement membrane formation: type IV collagen is seen inside the cells and in the basement membrane rather than just in the basement membrane; the basement membrane of neural tube is present but discontinuous and fragmented; the basement membranes of vascular endothelial cells are absent or replaced with amorphous material. Abnormal neural tube morphology/development: the basement membrane is present but discontinuous and fragmented. Abnormal Reichert's membrane morphology: abnormal typeIV collagen staining. Embryonic growth retardation: severely affected embryos show growth retardation at E8.5 and die before E10.5; almost all of the rest of the embryos show mild growth retardation and die before E14.5. Intracranial hemorrhage at E12.5-13.5. Abnormal vascular endothelial cell morphology: the basement membranes are absent or replaced with amorphous material, the endoplasmic reticulum is dilated, apoptosis is increased, and ruptures of the endothelial cell layer are seen. Severely affected embryos have dilated blood vessels. Some embryos with intracranial hemorrhage develop blisters on the surface of the head at E.12.5.Heterozygous:No observed phenotype |
| Breeding history | The chimeras were bred with C57BL/6OlaHsd mice and the mice were cross-bred without further back-crossing. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency / Orphanet_300284
MGI phenotypes (allele matching)
- blistering / MGI
- intracranial hemorrhage / MGI
- abnormal neural tube morphology / MGI
- impaired basement membrane formation / MGI
- abnormal Reichert's membrane morphology / MGI
- embryonic growth retardation / MGI
- increased vasodilation / MGI
- abnormal vascular endothelial cell morphology / MGI
- neonatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
MGI phenotypes (gene matching)
- cleft palate / MGI
- abnormal cell morphology / MGI
- exencephaly / MGI
- abnormal lung morphology / MGI
- blistering / MGI
- abnormal epidermal layer morphology / MGI
- decreased embryo size / MGI
- intracranial hemorrhage / MGI
- abnormal eye morphology / MGI
- abnormal neural tube morphology / MGI
- impaired basement membrane formation / MGI
- abnormal Reichert's membrane morphology / MGI
- embryonic growth retardation / MGI
- abnormal skeleton morphology / MGI
- increased vasodilation / MGI
- abnormal vascular endothelial cell morphology / MGI
- abnormal cutaneous collagen fibril morphology / MGI
- abnormal preimplantation embryo development / MGI
- neonatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
Literature references
- Glycosylation catalyzed by lysyl hydroxylase 3 is essential for basement membranes.;Ruotsalainen Heli, Sipilä Laura, Vapola Miia, Sormunen Raija, Salo Antti M, Uitto Lahja, Mercer Derry K, Robins Simon P, Risteli Maija, Aszodi Attila, Fässler Reinhard, Myllylä Raili, ;2006;Journal of cell science;119;625-35; 16467571