STOCK Gja1tm11.1Kwi/Cnrm

Status

Available to order

EMMA IDEM:09091
International strain nameSTOCK Gja1tm11.1Kwi/Cnrm
Alternative nameB6N;129P2-Gja1tm79Kwi/Cnrm
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolGja1tm11.1Kwi
Gene/Transgene symbolGja1

Information from provider

ProviderKlaus Willecke
Provider affiliationMolecular Genetics, Limes Institute
Genetic informationCx43floxCx43E42K
Phenotypic informationHomozygous:
Have not been investigated

Heterozygous:
Heterozygous cardiac-restricted Cx43E42K mutated mice die neonatally without major cardiac morphological defects. Electrocardiographic recordings of embryonic Cx43+/E42K mice reveal severely disturbed ventricular activation, whereas immunohistochemical analyses show normal localization and expression patterns of gap junctional Cx43 protein in the Cx43E42K mutated newborn mouse heart.
References
  • Human Connexin43E42K mutation from a sudden infant death victim leads to impaired ventricular activation and neonatal death in mice.;Lübkemeier Indra, Bosen Felicitas, Kim Jung-Sun, Sasse Philipp, Malan Daniela, Fleischmann Bernd K, Willecke Klaus, ;2015;Circulation. Cardiovascular genetics;8;21-9; 25504652
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredyes
Immunocompromisednot known

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

  • Human Connexin43E42K mutation from a sudden infant death victim leads to impaired ventricular activation and neonatal death in mice.;Lübkemeier Indra, Bosen Felicitas, Kim Jung-Sun, Sasse Philipp, Malan Daniela, Fleischmann Bernd K, Willecke Klaus, ;2015;Circulation. Cardiovascular genetics;8;21-9; 25504652

Information on how we integrate external resources can be found here

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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*
  • Frozen sperm. 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

Example health report
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Material Transfer Agreement (MTA)
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