IMPC phenotypes (gene matching)
B6.129(Cg)-Plod3tm2.1Rmyl/Oulu
| Status | Available to order |
| EMMA ID | EM:08225 |
| Citation information | RRID:IMSR_EM:08225 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 | B6.129(Cg)-Plod3tm2.1Rmyl/Oulu |
| Alternative name | Plod3tm2.1Rmyl |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Plod3tm2.1Rmyl |
| 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 | Homozygote for an Asp669Ala mutation in exon 18 of Plod3 along with a remaining loxP site in intron 18 after deletion of floxed neo cassette by crossing to cre recombinase deleter. The mutation disrupts the lysyl hydroxylase activity of multifunctional lysyl hydroxylase 3. |
| Phenotypic information | Homozygous:Impaired basement membrane formation (J:106510): - thickness of the lamina densa is decreased in the epidermal basement membrane, more obviously in newborns than in adults - the basement membrane of cells in the newborn lung is also abnormal. Respiratory system: Abnormal lung morphology (J:106510): - the basement membrane and collagen fibril morphology of cells in the newborn lung is abnormal - however, homozygotes are viable and fertile with normal kidney, heart, liver, muscle, spleen, and testis morphology. Abnormal cutaneous collagen fibril morphology (J:106510): - collagen fibrils are more disorganized and loosely packed in bundles compared to wild-type mice - collagen fibrils are also covered with a diffuse material not seen in wild-type mice. Abnormal epidermal layer morphology (J:106510): - thickness of the lamina densa is decreased in the epidermal basement membrane - abnormal distribution of type VI collagen in skin - a reduction in the amount of type IV collagen in skin. Muscle: - sarcoplasmic reticulum dilatations and vacuolization, and swollen mitochondria - uneven distribution of type IV and VI collagens and muscular basement membrane detachments. Serum: - reduced adiponectin level - after a high fat diet increased glucose, triglyceride, and LDL-cholesterol levels.Heterozygous:No observed phenotype |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
| Animals used for archiving | homozygous C57BL/6JOlaHsd males, wild-type C57BL/6JOlaHsd females |
| Stage of embryos | 2-cell |
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 (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
- Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines.;Sipilä Laura, Ruotsalainen Heli, Sormunen Raija, Baker Naomi L, Lamandé Shireen R, Vapola Miia, Wang Chunguang, Sado Yoshikazu, Aszodi Attila, Myllylä Raili, ;2007;The Journal of biological chemistry;282;33381-33388; 17873278
- The activities of lysyl hydroxylase 3 (LH3) regulate the amount and oligomerization status of adiponectin.;Ruotsalainen Heli, Risteli Maija, Wang Chunguang, Wang Yu, Karppinen Marjo, Bergmann Ulrich, Kvist Ari-Pekka, Pospiech Helmut, Herzig Karl-Heinz, Myllylä Raili, ;2012;PloS one;7;e50045; 23209641