B6NCrl;129P2-Gja1tm8Kwi/Cnrm

Status

Available to order

EMMA IDEM:02386
International strain nameB6NCrl;129P2-Gja1tm8Kwi/Cnrm
Alternative nameCx43floxCx43G138R
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolGja1tm8Kwi
Gene/Transgene symbolGja1

Information from provider

ProviderKlaus WILLECKE
Provider affiliationMolekulargenetik, Institut fuer Genetik, Universitaet Bonn
Genetic informationAfter cre recombinase mediated deletion of the Cx43 coding region and the frt sites-flanked neomycin-resistance cassette, the point mutation Cx43 G138R and eGFP is expressed under the control of the endogenous Cx43 promoter.
Phenotypic informationNot in the loxP-flanked state; after ubiquitous expression of Cx43 G138R heterozygous mice have syndactilies, fur/skin and teeth abnormalities and homozygous Cx43 G138R/G138R mice are not viable.
Breeding historyAfter blastocyst injection the chimeras were bred with C57BL/6NCrl to obtain brown offspring. This brown offspring was backcrossed more than three times with C57BL/6NCrl.
References
  • The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.;Dobrowolski Radoslaw, Sasse Philipp, Schrickel Jan W, Watkins Marcus, Kim Jung-Sun, Rackauskas Mindaugas, Troatz Clemens, Ghanem Alexander, Tiemann Klaus, Degen Joachim, Bukauskas Feliksas F, Civitelli Roberto, Lewalter Thorsten, Fleischmann Bernd K, Willecke Klaus, ;2008;Human molecular genetics;17;539-54; 18003637

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (gene matching)
  • delayed bone ossification / MGI
  • decreased bone mineral density / MGI
  • abnormal neurocranium morphology / MGI
  • abnormal parietal bone morphology / MGI
  • abnormal tooth development / MGI
  • brittle teeth / MGI
  • abnormal rib morphology / MGI
  • abnormal heart morphology / MGI
  • abnormal heart development / MGI
  • abnormal heart shape / MGI
  • thin ventricular wall / MGI
  • abnormal interventricular septum morphology / MGI
  • decreased bone marrow cell number / MGI
  • abnormal cranium morphology / MGI
  • pointed snout / MGI
  • syndactyly / MGI
  • abnormal ovary morphology / MGI
  • small ovary / MGI
  • impaired ovarian folliculogenesis / MGI
  • abnormal ovarian follicle morphology / MGI
  • absent mature ovarian follicles / MGI
  • absent corpus luteum / MGI
  • small testis / MGI
  • abnormal spermatogenesis / MGI
  • abnormal skin condition / MGI
  • abnormal epidermis stratum granulosum morphology / MGI
  • abnormal epidermis stratum corneum morphology / MGI
  • decreased body weight / MGI
  • decreased body size / MGI
  • cataract / MGI
  • corneal opacity / MGI
  • irregularly shaped pupil / MGI
  • abnormal iris morphology / MGI
  • abnormal suckling behavior / MGI
  • abnormal cardiovascular system physiology / MGI
  • cyanosis / MGI
  • cardiac hypertrophy / MGI
  • abnormal heart rate / MGI
  • irregular heartbeat / MGI
  • postnatal growth retardation / MGI
  • edema / MGI
  • heart inflammation / MGI
  • abnormal lactation / MGI
  • reduced female fertility / MGI
  • male infertility / MGI
  • female infertility / MGI
  • decreased litter size / MGI
  • abnormal breathing pattern / MGI
  • ovary cysts / MGI
  • perinatal lethality / MGI
  • premature death / MGI
  • abnormal tooth morphology / MGI
  • abnormal digit morphology / MGI
  • abnormal craniofacial bone morphology / MGI
  • no abnormal phenotype detected / MGI
  • small heart / MGI
  • decreased germ cell number / MGI
  • abnormal seminiferous tubule morphology / MGI
  • abnormal pulmonary gas exchange / MGI
  • abnormal bone marrow cell morphology/development / MGI
  • abnormal proerythroblast morphology / MGI
  • abnormal neutrophil physiology / MGI
  • reduced enamel thickness / MGI
  • decreased mature ovarian follicle number / MGI
  • oligozoospermia / MGI
  • abnormal semilunar valve morphology / MGI
  • abnormal pulmonary valve morphology / MGI
  • dilated heart left ventricle / MGI
  • impaired skin barrier function / MGI
  • abnormal cardiac muscle contractility / MGI
  • no phenotypic analysis / MGI
  • short zygomatic bone / MGI
  • abnormal impulse conducting system conduction / MGI
  • cardiac fibrosis / MGI
  • prolonged QT interval / MGI
  • abnormal alisphenoid bone morphology / MGI
  • decreased ovulation rate / MGI
  • impaired luteinization / MGI
  • delayed endochondral bone ossification / MGI
  • delayed intramembranous bone ossification / MGI
  • maternal effect / MGI
  • abnormal milk ejection / MGI
  • abnormal nervous system development / MGI
  • prolonged PR interval / MGI
  • shortened QT interval / MGI
  • abnormal heart right ventricle morphology / MGI
  • thin myocardium compact layer / MGI
  • abnormal trabecula carnea morphology / MGI
  • prolonged P wave / MGI
  • abnormal coronary artery morphology / MGI
  • abnormal atrioventricular bundle conduction / MGI
  • abnormal myocardial fiber physiology / MGI
  • patent cardiac foramen ovale / MGI
  • small frontal bone / MGI
  • interparietal bone hypoplasia / MGI
  • abnormal zygomatic arch morphology / MGI
  • small nasal bone / MGI
  • small maxilla / MGI
  • small mandible / MGI
  • abnormal thoracic cage morphology / MGI
  • decreased testis weight / MGI
  • abnormal vascular wound healing / MGI
  • decreased male germ cell number / MGI
  • decreased bone strength / MGI
  • abnormal osteoblast physiology / MGI
  • decreased cardiac muscle contractility / MGI
  • azoospermia / MGI
  • abnormal occipital bone morphology / MGI
  • abnormal heart ventricle morphology / MGI
  • abnormal phalanx morphology / MGI
  • abnormal myocardium layer morphology / MGI
  • decreased heart rate / MGI
  • small cranium / MGI
  • abnormal incisor morphology / MGI
  • hearing/vestibular/ear phenotype / MGI
  • embryo phenotype / MGI
  • cardiovascular system phenotype / MGI
  • behavior/neurological phenotype / MGI
  • vision/eye phenotype / MGI
  • abnormal vascular smooth muscle physiology / MGI
  • decreased ventricle muscle contractility / MGI
  • decreased tympanic ring size / MGI
  • semilunar valve regurgitation / MGI
  • abnormal cardiac outflow tract development / MGI
  • abnormal mammary gland growth during pregnancy / MGI
  • abnormal spermatocyte morphology / MGI
  • abnormal osteoblast differentiation / MGI
  • abnormal granulosa cell morphology / MGI
  • ventricular tachycardia / MGI
  • abnormal mammary gland alveolus morphology / MGI
  • abnormal superovulation / MGI
  • ventricular premature beat / MGI
  • decreased bone mineral content / MGI
  • prolonged QRS complex duration / MGI
  • decreased QRS amplitude / MGI
  • abnormal heart right ventricle outflow tract morphology / MGI
  • heart right ventricle outflow tract stenosis / MGI
  • abnormal coronary vein morphology / MGI
  • coronary fistula / MGI
  • coronary artery aneurysm / MGI
  • abnormal heart electrocardiography waveform feature / MGI
  • abnormal coronary vessel morphology / MGI
  • thick aortic valve / MGI
  • thick pulmonary valve / MGI
  • integument phenotype / MGI
  • postnatal lethality, complete penetrance / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • neonatal lethality, complete penetrance / MGI
  • perinatal lethality, complete penetrance / MGI
  • perinatal lethality, incomplete penetrance / MGI
  • preweaning lethality, complete penetrance / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
  • preweaning lethality, incomplete penetrance / MGI
  • abnormal mammary gland luminal epithelium morphology / MGI
  • small lower incisors / MGI
  • small snout / MGI
  • thin parietal bone / MGI
  • small neurocranium / MGI

Literature references

  • The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.;Dobrowolski Radoslaw, Sasse Philipp, Schrickel Jan W, Watkins Marcus, Kim Jung-Sun, Rackauskas Mindaugas, Troatz Clemens, Ghanem Alexander, Tiemann Klaus, Degen Joachim, Bukauskas Feliksas F, Civitelli Roberto, Lewalter Thorsten, Fleischmann Bernd K, Willecke Klaus, ;2008;Human molecular genetics;17;539-54; 18003637

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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).

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Practical information

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