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)
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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Find Mice |
Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
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mortality/aging
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• 40% die suddenly by 6 months of age showing no visible signs of illness
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• premature lethality is particularly common among pregnant and nursing females
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• proportion of transgenics arising from hemizygous matings is decreased to 54% at weaning
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growth/size/body
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• small size reflects a growth deficiency, not a developmental delay, as embryos are at the same somite stage of development as controls
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cardiovascular system
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• unusual dilation of vessels
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• apical myocardium of the right ventricle exhibits a spongy appearance in fetal/neonatal hearts
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• trabeculae are disorganized in the right ventricle of fetal/neonatal hearts
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• show abnormalities in the disposition of surface coronary vasculature
• abnormalities in the deployment of the subepicardial coronary vasculature are frequently seen
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• heart dysmorphology associated with overall shape
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• near absence of the compact layer in the right ventricle of fetal/neonatal hearts
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• hypertrophy of the interventricular septum in fetal/neonatal hearts
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• enlargement of the conotruncal region of the right ventricle, seen as an outpouching which extends along the right atrioventricular groove
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• narrowing of the pulmonary outflow region caused by apparent hypertrophy of the right ventricle
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• some hearts exhibit aneurysm-like pouchings of the ventricular lumen
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nervous system
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• in severely affected embryos, the neural plate encompassing the midbrain/anterior hindbrain fails to elevate and exhibits a flat configuration with a convex curvature and abnormal curling along the dorsolateral margin
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• 24% incidence of neural tube defects at E8.5-E14.5
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• exhibit neural tube closure defects, however by late gestation, nearly all embryos appear normal, suggesting that neural tube closure eventually proceeds to completion
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• embryos at E8 with a mild neural tube defects exhibit small openings along the roof of the presumptive midbrain/hindbrain
• severely affected E8-8.5 embryos exhibit complete failure of neural tube closure between closure sites 2 and 4
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• collapsed appearance of brain ventricles at E10.5-11.5
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• partial or complete exencephaly is seen in a few embryos late in gestation
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• both mutants with and without neural tube defects exhibit peripheral ganglia and nerve perturbations
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• trigeminal ganglion is reduced with little or no evidence for the formation of the ophthalmic, maxillary, and mandibular nerves
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• nerve projections from the facial-acoustico (VII/VIII) ganglia are reduced
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• roots of the hypoglossal nerve are poorly developed
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• spinal nerves are poorly developed
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muscle
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• apical myocardium of the right ventricle exhibits a spongy appearance in fetal/neonatal hearts
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• trabeculae are disorganized in the right ventricle of fetal/neonatal hearts
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• near absence of the compact layer in the right ventricle of fetal/neonatal hearts
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embryo
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• in severely affected embryos, the neural plate encompassing the midbrain/anterior hindbrain fails to elevate and exhibits a flat configuration with a convex curvature and abnormal curling along the dorsolateral margin
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• 24% incidence of neural tube defects at E8.5-E14.5
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• exhibit neural tube closure defects, however by late gestation, nearly all embryos appear normal, suggesting that neural tube closure eventually proceeds to completion
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• embryos at E8 with a mild neural tube defects exhibit small openings along the roof of the presumptive midbrain/hindbrain
• severely affected E8-8.5 embryos exhibit complete failure of neural tube closure between closure sites 2 and 4
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Allelic Composition |
Tg(CMV-Gja1)BClo/0
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Genetic Background |
involves: CD-1 * SJL/J * SWR/J |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
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mortality/aging
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• viability is reduced, with fewer hemizygous mice detected at weaning
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nervous system
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• 9% incidence of neural tube defects at E8.5-E14.5
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cellular
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• increase in gap junction communication in embryos
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embryo
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• 9% incidence of neural tube defects at E8.5-E14.5
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
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mortality/aging
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• mutants showing no visible signs of illness sometimes die suddenly
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• lethality is more common among pregnant and nursing females
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nervous system
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• 14% incidence of neural tube defects at E8.5-E14.5
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• both mutants with and without neural tube defects exhibit peripheral ganglia and nerve perturbations that are seen in homozygotes, although less severely
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cardiovascular system
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• exhibit similar, although less severe, cardiac abnormalities as seen in homozygotes
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embryo
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• 14% incidence of neural tube defects at E8.5-E14.5
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