B6.129-Plod3^tm1Rmyl/Oulu

Status	Available to order
EMMA ID	EM:08263
Citation information	RRID:IMSR_EM:08263 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-Plod3^tm1Rmyl/Oulu
Alternative name	Plod3tm1Rmyl
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Plod3^tm1Rmyl
Gene/Transgene symbol	Plod3

Information from provider

Provider	Heli Ruotsalainen
Provider affiliation	Faculty of Biochemistry and Molecular Medicine, University of Oulu
Additional owner	Prof. Raili Myllylä, Univerisity of Oulu, Oulu, Finland
Genetic information	Targeted knock-out of Plod3 by the insertion of an IRES-beta-gal-polyA-neo cassette into exon 2.
Phenotypic information	Homozygous: - complete embryonic lethality during organogenesis, embryos die around E9.5 - impaired basement membrane formation - type IV collagen is seen inside the cells rather than in the basement membrane - the basement membranes of the neural tube and vascular endothelial cells are absent - abnormal Reichert's membrane morphology - embryonic growth retardation - the basement membranes are absent, the endoplasmic reticulum is dilated, apoptosis is increased, and ruptures of the endothelial cell layer are seen - dilated blood vessels especially around the sinus venosus Heterozygous: - Deposition of ECM is affected in heterozygous LH3 knock-out mouse embryonic fibroblasts - ECM abnormalities also lead to defects in the arrangement of the cytoskeleton in MEFs - Ultrastructural abnormalities in the skin
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 Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.;Risteli Maija, Ruotsalainen Heli, Salo Antti M, Sormunen Raija, Sipilä Laura, Baker Naomi L, Lamandé Shireen R, Vimpari-Kauppinen Leena, Myllylä Raili, ;2009;The Journal of biological chemistry;284;28204-28211; 19696018 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
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	University of Oulu, Oulu, Finland
Animals used for archiving	heterozygous 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

IMPC phenotypes (gene matching)

abnormal auditory brainstem response / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal embryo size / IMPC
abnormal urinary bladder morphology / IMPC
abnormal pericardium morphology / IMPC
embryonic lethality prior to tooth bud stage / IMPC
embryonic growth retardation / IMPC

MGI phenotypes (allele matching)

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
embryonic lethality during organogenesis, complete 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
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
Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.;Risteli Maija, Ruotsalainen Heli, Salo Antti M, Sormunen Raija, Sipilä Laura, Baker Naomi L, Lamandé Shireen R, Vimpari-Kauppinen Leena, Myllylä Raili, ;2009;The Journal of biological chemistry;284;28204-28211; 19696018
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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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B6.129-Plod3tm1Rmyl/Oulu