- abnormal adipose tissue distribution / MGI
- big ears / MGI
- delayed bone ossification / MGI
- fragile skeleton / MGI
- increased bone mineral density / MGI
- decreased bone mineral density / MGI
- failure of bone resorption / MGI
- osteopetrosis / MGI
- kyphoscoliosis / MGI
- abnormal neurocranium morphology / MGI
- decreased compact bone thickness / MGI
- abnormal vertebral body morphology / MGI
- abnormal rib morphology / MGI
- kyphosis / MGI
- scoliosis / MGI
- heart right ventricle hypertrophy / MGI
- increased cell proliferation / MGI
- abnormal cell morphology / MGI
- focal hair loss / MGI
- abnormal cranium morphology / MGI
- abnormal maxilla morphology / MGI
- abnormal digestive system morphology / MGI
- abnormal forelimb morphology / MGI
- abnormal femur morphology / MGI
- syndactyly / MGI
- oligodactyly / MGI
- abnormal autopod morphology / MGI
- thin tail / MGI
- abnormal liver morphology / MGI
- weakness / MGI
- hindlimb paralysis / MGI
- abnormal uterus morphology / MGI
- lung hemorrhage / MGI
- thick skin / MGI
- skin hyperplasia / MGI
- abnormal dermal layer morphology / MGI
- thick dermal layer / MGI
- increased body length / MGI
- decreased body length / MGI
- increased body weight / MGI
- decreased body weight / MGI
- increased body size / MGI
- decreased body size / MGI
- abnormal tail movements / MGI
- abnormal locomotor behavior / MGI
- hypoactivity / MGI
- abnormal gait / MGI
- abnormal motor coordination/balance / MGI
- abnormal osteoclast physiology / MGI
- abnormal cardiovascular system physiology / MGI
- abnormal blood vessel morphology / MGI
- embryonic growth arrest / MGI
- lung inflammation / MGI
- hemorrhage / MGI
- intracranial hemorrhage / MGI
- increased litter size / MGI
- decreased litter size / MGI
- delayed sexual maturation / MGI
- respiratory distress / MGI
- abnormal coat/hair pigmentation / MGI
- premature death / MGI
- abnormal limb morphology / MGI
- abnormal digit morphology / MGI
- abnormal limb bone morphology / MGI
- abnormal fertility/fecundity / MGI
- no abnormal phenotype detected / MGI
- abnormal fibula morphology / MGI
- abnormal turbinate morphology / MGI
- decreased susceptibility to hepatic steatosis / MGI
- abnormal blood gas level / MGI
- delayed vaginal opening / MGI
- decreased circulating insulin level / MGI
- abnormal mechanical nociception / MGI
- decreased vertical activity / MGI
- abnormal dental pulp cavity morphology / MGI
- coarse hair / MGI
- increased growth rate / MGI
- increased insulin sensitivity / MGI
- abnormal bone mineralization / MGI
- increased circulating parathyroid hormone level / MGI
- decreased circulating alkaline phosphatase level / MGI
- arthritis / MGI
- abnormal bone healing / MGI
- no phenotypic analysis / MGI
- decreased skin tensile strength / MGI
- decreased tendon stiffness / MGI
- short femur / MGI
- decreased susceptibility to age related obesity / MGI
- aneurysm / MGI
- osteoarthritis / MGI
- abnormal long bone morphology / MGI
- abnormal compact bone morphology / MGI
- abnormal forelimb zeugopod morphology / MGI
- increased hepatocyte proliferation / MGI
- abnormal hormone level / MGI
- increased lean body mass / MGI
- decreased thermal nociceptive threshold / MGI
- decreased bone mass / MGI
- aortic dissection / MGI
- abnormal chest morphology / MGI
- abnormal pubis morphology / MGI
- abnormal ischium morphology / MGI
- abnormal pelvic girdle bone morphology / MGI
- thin ribs / MGI
- rib fractures / MGI
- decreased length of long bones / MGI
- abnormal vertebral column morphology / MGI
- short vertebral body / MGI
- increased susceptibility to age-related hearing loss / MGI
- abnormal osteoblast morphology / MGI
- increased osteoblast cell number / MGI
- decreased bone strength / MGI
- increased bone resorption / MGI
- abnormal osteoblast physiology / MGI
- liver hyperplasia / MGI
- decreased susceptibility to injury / MGI
- ocular hypertension / MGI
- improved glucose tolerance / MGI
- abnormal humerus morphology / MGI
- abnormal enzyme/coenzyme level / MGI
- abnormal myocardium layer morphology / MGI
- homeostasis/metabolism phenotype / MGI
- hearing/vestibular/ear phenotype / MGI
- digestive/alimentary phenotype / MGI
- reproductive system phenotype / MGI
- skeleton phenotype / MGI
- vision/eye phenotype / MGI
- decreased percent body fat/body weight / MGI
- abnormal skeleton morphology / MGI
- decreased circulating glucose level / MGI
- decreased ventricle muscle contractility / MGI
- decreased susceptibility to diet-induced obesity / MGI
- spinal hemorrhage / MGI
- abnormal heart septum morphology / MGI
- impaired hearing / MGI
- decreased diameter of femur / MGI
- abnormal myometrium morphology / MGI
- abnormal osteoblast differentiation / MGI
- abnormal cutaneous collagen fibril morphology / MGI
- abnormal osteocyte morphology / MGI
- fused carpal bones / MGI
- delayed female fertility / MGI
- small pancreatic islets / MGI
- decreased trabecular bone thickness / MGI
- abnormal endoplasmic reticulum morphology / MGI
- abnormal aorta elastic tissue morphology / MGI
- abnormal aorta tunica adventitia morphology / MGI
- decreased total body fat amount / MGI
- abnormal thoracic cage shape / MGI
- decreased bone mineral content / MGI
- abnormal heart electrocardiography waveform feature / MGI
- myocardial hypertrophy / MGI
- increased QRS amplitude / MGI
- abnormal bone trabecula morphology / MGI
- decreased bone trabecula number / MGI
- decreased bone volume / MGI
- decreased trabecular bone volume / MGI
- pulmonary alveolar hemorrhage / MGI
- abnormal compact bone lamellar structure / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- abnormal bone collagen fibril morphology / MGI
- abnormal tendon collagen fibril morphology / MGI
- decreased neuronal stem cell self-renewal / MGI
- thin body / MGI
- abnormal extracellular matrix morphology / MGI
- osteophytes / MGI
- increased bone trabecular spacing / MGI
- decreased bone trabecular spacing / MGI
- decreased bone ossification / MGI
- decreased bone mineralization / MGI
- decreased collagen level / MGI
- broad face / MGI
- thick neurocranium / MGI
- thin neurocranium / MGI
- increased osteoblast apoptosis / MGI
- abnormal dentin mineralization / MGI
- increased osteocyte apoptosis / MGI
- abnormal osteocyte lacuna morphology / MGI
- joint contracture / MGI
- atlanto-occipital joint dislocation / MGI
- abnormal olecranon morphology / MGI
B6.Cg-Col1a1tm1(tetO-Cpt1a,-GFP)Slms Tg(Pax8-rtTA2S*M2)1Koes/Cnbc
Status | Available to order |
EMMA ID | EM:13348 |
Citation information | RRID:IMSR_EM:13348 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.Cg-Col1a1tm1(tetO-Cpt1a,-GFP)Slms Tg(Pax8-rtTA2S*M2)1Koes/Cnbc |
Alternative name | Pax8-rtTAtg/0:tetO-Cpt1atg/0 (Pax8-CPT1A) |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Col1a1tm1(tetO-Cpt1a,-GFP)Slms, Tg(Pax8-rtTA2S*M2)1Koes |
Gene/Transgene symbol | Col1a1, Tg(Pax8-rtTA2S*M2)1Koes |
Information from provider
Provider | Santiago Lamas |
Provider affiliation | Procesos Fisiológicos y Patológicos, Centro de Biología Molecular Severo Ochoa |
Genetic information | Pax8-rtTA cassette (Chr 8): expression of rtTA in renal proximal epithelial cells. TRE-CPT1A-P2A-GFP cassette (Col1a1 locus): CPT1A and GFP coding sequence under the control of the TRE element. P2A allows the protein excision among CPT1A and GFP. The TRE-CPT1A-PA2A-GFP cassette (minimal CMV promoter) contained in a pBS31 vector was inserted downstream of the Col1a1 locus by FRT/flippase-mediated recombination. |
Phenotypic information | Homozygous:Phenotypically undistinguishable from wild-type mice. No anatomical anomalies, physiological variations, behavioural abnormalities or food uptake alterations.Heterozygous:No phenotypic alterations. Mice present a CPT1A overexpression and enhanced fatty acid oxidation in the tubular cells in the kidney. |
Breeding history | Pax8-rtTA mice (C57BL/6J; JAX number 007176) were crossed with the newly generated TRE-CPT1A mice (B6N;129/Sv background). Resulting mice were backcrossed to C57BL/6J mice for at least 5 generations to generate this congenic strain. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Ehlers-Danlos/osteogenesis imperfecta syndrome / Orphanet_230857
- Osteogenesis imperfecta type 3 / Orphanet_216812
- Arthrochalasia Ehlers-Danlos syndrome / Orphanet_1899
- Classical Ehlers-Danlos syndrome / Orphanet_287
- Osteogenesis imperfecta type 2 / Orphanet_216804
- Osteogenesis imperfecta type 4 / Orphanet_216820
- Caffey disease / Orphanet_1310
- High bone mass osteogenesis imperfecta / Orphanet_314029
- Osteogenesis imperfecta type 1 / Orphanet_216796
MGI phenotypes (gene matching)
Literature references
- Renal tubule Cpt1a overexpression protects from kidney fibrosis by restoring mitochondrial homeostasis.;Miguel Verónica, Tituaña Jessica, Herrero J Ignacio, Herrero Laura, Serra Dolors, Cuevas Paula, Barbas Coral, Puyol Diego Rodríguez, Márquez-Expósito Laura, Ruiz-Ortega Marta, Castillo Carolina, Sheng Xin, Susztak Katalin, Ruiz-Canela Miguel, Salas-Salvadó Jordi, González Miguel A Martínez, Ortega Sagrario, Ramos Ricardo, Lamas Santiago, ;2021;The Journal of clinical investigation;131;; 33465052
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