Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
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mortality/aging
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• homozygotes survive to term but die shortly after birth of cyanosis caused by right ventricular outflow tract obstruction
• homozygotes delivered by Cesarian section die shortly after delivery; occasionally, pups survive up to 5 hrs after birth
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cardiovascular system
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• mutant hearts display a slight increase in trabeculation of the right ventricle relative to wild-type or heterozygous hearts
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• at E16.5 and at term, homozygotes exhibit a consistent conus defect, manifest as an enlarged right ventricular outflow tract
• at term, the enlarged right ventricular cavity is abnormally filled with intraventicular septae that divide the tract into separate, interconnected or blind-ended chambers
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• at E16.5 and at term, homozygotes exhibit a consistent conus defect, manifest as an enlarged right ventricular outflow tract
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• newborns display an obstruction of the subpulmonary right ventricular outflow tract from the heart to the newly ventilated lungs resulting in failure of pulmonary gas exchange
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• PDGF-induced vascular smooth muscle cell proliferation in low serum media is ablated
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respiratory system
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• homozygous mutant pups exhibit labored breathing and swollen abdomens and stomach
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homeostasis/metabolism
muscle
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• mutant hearts display a slight increase in trabeculation of the right ventricle relative to wild-type or heterozygous hearts
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• PDGF-induced vascular smooth muscle cell proliferation in low serum media is ablated
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
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E16.5 and E18.5 Gja1tm1Kdr/Gja1tm1Kdr skulls are hypomineralized
skeleton
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• cultured calvaria osteoblasts show a decrease in alkaline phosphatase activity, indicating abnormal differentiation
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• gap junctional communication is impaired in osteoblasts as indicated by minimal cell to cell transmission of calcein
• calvarial osteoblasts grown in mineralization medium show a reduced capacity to form mineralized nodules
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• cranial bones originating from migratory neural crest cells are hypoplastic, leaving an open foramen at birth
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• mutants have a more prominent cartilaginous anlage of the occipital bone
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• open parietal foramen
• thinner, brittle parietal bones with reduced diploic space
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• lower incisors are not as prominent at birth as in wild-type
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• incisor teeth are not visible at E18.5 as they are in wild-type, and although they are visible at birth, they are less prominent
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• smaller at E18.5 and at birth
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• maxillary bones are slightly smaller
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• jugal bone of the zygomatic arch is shorter, resulting in a misshapen zygomatic arch
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• the thoracic cage is more brittle at E15.5
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• ribs appear jagged-shaped and slightly thinner at E15.5
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• delayed ossification of the calvarium bones, clavicles, ribs, vertebrae, and limbs
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• bone segments formed by endochondral ossification, including pterygoid, alisphenoid, and basisphenoid, show delayed ossification
• endochondral ossification of the axial skeleton is delayed by 1-2 days, but is normal by birth
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• intramembranous ossification of the cranial vault and the clavicle is delayed
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craniofacial
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• cranial bones originating from migratory neural crest cells are hypoplastic, leaving an open foramen at birth
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• mutants have a more prominent cartilaginous anlage of the occipital bone
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• open parietal foramen
• thinner, brittle parietal bones with reduced diploic space
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• lower incisors are not as prominent at birth as in wild-type
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• incisor teeth are not visible at E18.5 as they are in wild-type, and although they are visible at birth, they are less prominent
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• smaller at E18.5 and at birth
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• maxillary bones are slightly smaller
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• jugal bone of the zygomatic arch is shorter, resulting in a misshapen zygomatic arch
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• slightly smaller and pointed snout
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• slightly smaller and pointed snout
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hearing/vestibular/ear
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• smaller and thinner at birth
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cellular
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• cultured calvaria osteoblasts show a decrease in alkaline phosphatase activity, indicating abnormal differentiation
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• gap junctional communication is impaired in osteoblasts as indicated by minimal cell to cell transmission of calcein
• calvarial osteoblasts grown in mineralization medium show a reduced capacity to form mineralized nodules
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growth/size/body
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• lower incisors are not as prominent at birth as in wild-type
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• incisor teeth are not visible at E18.5 as they are in wild-type, and although they are visible at birth, they are less prominent
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• slightly smaller and pointed snout
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• slightly smaller and pointed snout
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respiratory system
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
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behavior/neurological
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• newborn homozygotes fail to feed and are cast aside by their mothers
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cardiovascular system
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• attempts to record spontaneous or paced electrical activity in neonatal homozygous mutant hearts were unsuccessful, suggesting severe functional defects
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Allelic
Composition |
Gja1tm1Kdr/Gja1tm1Kdr
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Genetic
Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
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endocrine/exocrine glands
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• cultured neonatal ovaries failed to develop follicles with multuple layers of granulosa cells
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reproductive system
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• reduced number of germ cells in the fetal gonads of both sexes
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• cultured neonatal ovaries failed to develop follicles with multuple layers of granulosa cells
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cellular
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• reduced number of germ cells in the fetal gonads of both sexes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
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reproductive system
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• testes grafted from mutant fetuses under the kidney capsules of adult males and allowed to grow for 3 weeks contain at least 90% fewer germ cells
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cellular
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• testes grafted from mutant fetuses under the kidney capsules of adult males and allowed to grow for 3 weeks contain at least 90% fewer germ cells
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Allelic
Composition |
Gja1tm1Kdr/Gja1+
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Genetic
Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
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cardiovascular system
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• 22 of 25 show various defects in patterning of the coronary arteries, including abnormal origin and course of the main coronary artery stems, multiple accessory coronary arteries, and dual septal-conal branches
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• in neonatal heterozygotes, ventricular epicardial conduction of paced beats is 30% slower than in wild-type neonates
• in adult (6-9 mo-old) heterozygotes, ventricular epicardial conduction is 44% slower than in wild-type hearts; no differences are observed in refractory periods
• no apparent differences in wall thickness or the orientation or fiber curvature in the three muscle layers of the left ventricle are observed
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• standard 3-lead surface ECGs from adult heterozygotes indicate a significantly prolonged QRS interval relative to wild-type mice (13.41.8 ms vs 11.51.4 ms, respectively)
• no differences are observed in spontaneous heart rates either during isolated heart studies in vitro or by electrocardiography
• no differences are noted in atrioventricular conduction times in isolated neonatal heterozygous hearts, or in PQ intervals in adult ECG studies
• whole-cell recordings display no differences in any action potential parameters in ventricular myocytes isolated from neonatal heterozygous and wild-type mice
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1.1Kwi mutation
(0 available);
any
Gja1 mutation
(59 available)
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
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mortality/aging
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• homozygotes die within 1 day after birth
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
Gja1tm1Kwi mutation
(1 available);
any
Gja1 mutation
(59 available)
Tg(Tek-cre)5326Sato mutation
(0 available)
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normal phenotype
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• mutants lacking Gja1 in endothelium are viable, fertile, and show no abnormalities in the heart, brain, retina, pancreas, liver, kidney, spleen, testis, or blood pressure
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1Kdr mutation
(1 available);
any
Gja1 mutation
(59 available)
Tg(CMV-Gja1)BClo mutation
(0 available)
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mortality/aging
cardiovascular system
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• exhibit a network of fiber-like projections over the surface of the heart that are not seen in controls
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• conotruncal enlargement of the right ventricle with multiple bulges
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• blood flow into the right ventricular tract shows varying degrees of obstruction, with the most severe obstruction leading to backflow of the injected dye into the atrial chambers
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muscle
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• conotruncal enlargement of the right ventricle with multiple bulges
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growth/size/body
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• conotruncal enlargement of the right ventricle with multiple bulges
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Analysis Tools