- enlarged spleen / IMPC
- abnormal craniofacial morphology / IMPC
- abnormal spleen morphology / IMPC
- abnormal kidney morphology / IMPC
- abnormal caudal vertebrae morphology / IMPC
- abnormal skin morphology / IMPC
- preweaning lethality, complete penetrance / IMPC
- edema / IMPC
- abnormal placenta morphology / IMPC
- small kidney / IMPC
B6N.129-Loxtm1Soin/Oulu
Status | Available to order |
EMMA ID | EM:14894 |
Citation information | RRID:IMSR_EM:14894 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 | B6N.129-Loxtm1Soin/Oulu |
Alternative name | B6.129-LoxtmSoin/Oulu |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Loxtm1Soin |
Gene/Transgene symbol | Lox |
Information from provider
Provider | Joni Mäki |
Provider affiliation | University of Oulu |
Genetic information | Lysyl oxidase (Lox) gene was inactivated by deleting its 1st exon in mouse embryonic stem (ES) cells. ES cells carrying the inactivated Lox gene were generated by two-step targeting method comprising homologous recombination followed by cre recombination. The presently submitted strain (EMMA ID EM:14894) is on C57BL/6N background to provide a wider background for this animal model. The same mutation is also carried by the previously submitted EM:07434 EMMA strain, which is on C57BL/6JOlaHsd background. The C57BL/6JOlaHsd substrain differs from other C57BL/6J substrains, as it carries a deletion in the Snca gene that is not present in any other B6 substrain. The Snca mutation may be of importance e.g. for studies on Parkinson’s disease. Most C57BL/6J mice have a deletion in Nnt gene that results in inappropriate glucose homeostasis in B6J male mice. Regarding this gene the C57BL/6JOlaHsd substrain resembles C57BL/6N lines, which do not carry this mutation. |
Phenotypic information | Homozygous:Perinatal death, cardiovascular defects, pulmonary defects, muscular defects, bone abnormalities, collagen and elastin abnormalities. Heterozygous:Viable. No defects observed. |
Breeding history | The Lox mouse line is backcrossed to C57BL/6N for hundreds of generations. |
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
- Familial thoracic aortic aneurysm and aortic dissection / Orphanet_91387
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- abnormal blood flow velocity / MGI
- abnormal pulmonary artery morphology / MGI
- atelectasis / MGI
- pulmonary hypoplasia / MGI
- hypoactivity / MGI
- abnormal suckling behavior / MGI
- cyanosis / MGI
- hemorrhage / MGI
- emphysema / MGI
- abnormal diaphragm morphology / MGI
- abnormal pulmonary elastic fiber morphology / MGI
- diaphragmatic hernia / MGI
- abnormal enzyme/coenzyme activity / MGI
- decreased lung weight / MGI
- semilunar valve regurgitation / MGI
- aortic aneurysm / MGI
- abnormal cutaneous elastic fiber morphology / MGI
- abnormal cutaneous collagen fibril morphology / MGI
- abnormal aorta elastic tissue morphology / MGI
- abnormal aorta smooth muscle morphology / MGI
- aorta stenosis / MGI
- dilated respiratory conducting tubes / MGI
- abnormal bronchiole epithelium morphology / MGI
- abnormal pulmonary acinus morphology / MGI
- impaired branching involved in terminal bronchiole morphogenesis / MGI
- impaired branching involved in respiratory bronchiole morphogenesis / MGI
- perinatal lethality, complete penetrance / MGI
MGI phenotypes (gene matching)
- abnormal blood flow velocity / MGI
- heart right ventricle hypertrophy / MGI
- abnormal pulmonary artery morphology / MGI
- atelectasis / MGI
- pulmonary hypoplasia / MGI
- hypoactivity / MGI
- abnormal suckling behavior / MGI
- cyanosis / MGI
- abnormal blood vessel morphology / MGI
- hemorrhage / MGI
- emphysema / MGI
- abnormal diaphragm morphology / MGI
- heart left ventricle hypertrophy / MGI
- decreased skin tensile strength / MGI
- abnormal pulmonary elastic fiber morphology / MGI
- decreased aorta elastin content / MGI
- diaphragmatic hernia / MGI
- hemothorax / MGI
- hemoperitoneum / MGI
- abnormal enzyme/coenzyme activity / MGI
- decreased lung weight / MGI
- semilunar valve regurgitation / MGI
- abnormal blood vessel elastic tissue morphology / MGI
- aortic aneurysm / MGI
- abnormal cutaneous elastic fiber morphology / MGI
- abnormal cutaneous collagen fibril morphology / MGI
- abnormal aorta elastic tissue morphology / MGI
- abnormal aorta smooth muscle morphology / MGI
- abnormal aorta wall morphology / MGI
- abnormal descending thoracic aorta morphology / MGI
- pulmonary artery stenosis / MGI
- aorta stenosis / MGI
- supravalvar aortic stenosis / MGI
- dilated respiratory conducting tubes / MGI
- abnormal bronchiole epithelium morphology / MGI
- abnormal pulmonary acinus morphology / MGI
- decreased aorta wall thickness / MGI
- impaired branching involved in terminal bronchiole morphogenesis / MGI
- impaired branching involved in respiratory bronchiole morphogenesis / MGI
- perinatal lethality, complete penetrance / MGI
- abnormal diaphragm central tendon morphology / MGI
- abnormal diaphragm development / MGI
Literature references
- Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice.;Mäki Joni M, Räsänen Juha, Tikkanen Hilkka, Sormunen Raija, Mäkikallio Kaarin, Kivirikko Kari I, Soininen Raija, ;2002;Circulation;106;2503-9; 12417550
- Lysyl oxidase is essential for normal development and function of the respiratory system and for the integrity of elastic and collagen fibers in various tissues.;Mäki Joni M, Sormunen Raija, Lippo Sari, Kaarteenaho-Wiik Riitta, Soininen Raija, Myllyharju Johanna, ;2005;The American journal of pathology;167;927-36; 16192629
- Muscle composition is regulated by a Lox-TGFβ feedback loop.;Kutchuk Liora, Laitala Anu, Soueid-Bomgarten Sharon, Shentzer Pessia, Rosendahl Ann-Helen, Eilot Shelly, Grossman Moran, Sagi Irit, Sormunen Raija, Myllyharju Johanna, Mäki Joni M, Hasson Peleg, ;2015;Development (Cambridge, England);142;983-93; 25715398
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