Phenotypes associated with this allele

• Allele Symbol: Tg(CMV-Gja1)BClo
• Allele Name: transgene insertion B, Cecilia W Lo
• Allele ID: MGI:3620921
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Gja1^tm1Kdr/Gja1^tm1Kdr Tg(CMV-Gja1)BClo/0	involves: 129S1/Sv * 129X1/SvJ * SJL/J * SWR/J	MGI:3622647
tg2	Tg(CMV-Gja1)BClo/Tg(CMV-Gja1)BClo	involves: SJL/J * SWR/J	MGI:3622646
tg3	Tg(CMV-Gja1)BClo/0	involves: CD-1 * SJL/J * SWR/J	MGI:3622645
tg4	Tg(CMV-Gja1)BClo/0	involves: SJL/J * SWR/J	MGI:3622644

Genotype
MGI:3622647

cx1

• Allelic Composition: Gja1^tm1Kdr/Gja1^tm1Kdr; Tg(CMV-Gja1)BClo/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * SJL/J * SWR/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality ( J:40388 )

• 3 of 10 die at P12

cardiovascular system

abnormal heart morphology ( J:40388 )

• exhibit a network of fiber-like projections over the surface of the heart that are not seen in controls

heart right ventricle hypertrophy ( J:40388 )

• conotruncal enlargement of the right ventricle with multiple bulges

abnormal blood circulation ( J:40388 )

• 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

muscle

heart right ventricle hypertrophy ( J:40388 )

• conotruncal enlargement of the right ventricle with multiple bulges

growth/size/body

heart right ventricle hypertrophy ( J:40388 )

• conotruncal enlargement of the right ventricle with multiple bulges

Genotype
MGI:3622646

tg2

• Allelic Composition: Tg(CMV-Gja1)BClo/Tg(CMV-Gja1)BClo
• Genetic Background: involves: SJL/J * SWR/J

mortality/aging

premature death ( J:40388 )

• 40% die suddenly by 6 months of age showing no visible signs of illness

pregnancy-related premature death ( J:40388 )

• premature lethality is particularly common among pregnant and nursing females

postnatal lethality ( J:40388 )

• proportion of transgenics arising from hemizygous matings is decreased to 54% at weaning

growth/size/body

decreased body size ( J:40388 )

• small size reflects a growth deficiency, not a developmental delay, as embryos are at the same somite stage of development as controls

cardiovascular system

dilated vasculature ( J:40388 )

• unusual dilation of vessels

abnormal myocardium layer morphology ( J:40388 )

• apical myocardium of the right ventricle exhibits a spongy appearance in fetal/neonatal hearts

abnormal myocardial trabeculae morphology ( J:40388 )

• trabeculae are disorganized in the right ventricle of fetal/neonatal hearts

abnormal coronary vessel morphology ( J:40388 )

• show abnormalities in the disposition of surface coronary vasculature

• abnormalities in the deployment of the subepicardial coronary vasculature are frequently seen

abnormal heart shape ( J:40388 )

• heart dysmorphology associated with overall shape

abnormal heart ventricle morphology ( J:40388 )

thin right ventricle myocardium compact layer ( J:40388 )

• near absence of the compact layer in the right ventricle of fetal/neonatal hearts

abnormal interventricular septum morphology ( J:40388 )

• hypertrophy of the interventricular septum in fetal/neonatal hearts

abnormal heart right ventricle outflow tract morphology ( J:40388 )

• enlargement of the conotruncal region of the right ventricle, seen as an outpouching which extends along the right atrioventricular groove

heart right ventricle outflow tract stenosis ( J:40388 )

• narrowing of the pulmonary outflow region caused by apparent hypertrophy of the right ventricle

dilated heart right ventricle ( J:40388 )

ventricular aneurysm ( J:40388 )

• some hearts exhibit aneurysm-like pouchings of the ventricular lumen

nervous system

abnormal neural plate morphology ( J:40388 )

• 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

abnormal neural tube morphology ( J:40388 )

• 24% incidence of neural tube defects at E8.5-E14.5

delayed neural tube closure ( J:40388 )

• exhibit neural tube closure defects, however by late gestation, nearly all embryos appear normal, suggesting that neural tube closure eventually proceeds to completion

incomplete rostral neuropore closure ( J:40388 )

• 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

collapsed brain ventricles ( J:40388 )

• collapsed appearance of brain ventricles at E10.5-11.5

exencephaly ( J:40388 )

• partial or complete exencephaly is seen in a few embryos late in gestation

abnormal somatic nervous system morphology ( J:40388 )

• both mutants with and without neural tube defects exhibit peripheral ganglia and nerve perturbations

small trigeminal ganglion ( J:40388 )

• trigeminal ganglion is reduced with little or no evidence for the formation of the ophthalmic, maxillary, and mandibular nerves

abnormal facial nerve morphology ( J:40388 )

• nerve projections from the facial-acoustico (VII/VIII) ganglia are reduced

abnormal hypoglossal nerve morphology ( J:40388 )

• roots of the hypoglossal nerve are poorly developed

abnormal oculomotor nerve morphology ( J:40388 )

• reduced at E9.5

absent trochlear nerve ( J:40388 )

abnormal spinal nerve morphology ( J:40388 )

• spinal nerves are poorly developed

muscle

abnormal myocardium layer morphology ( J:40388 )

• apical myocardium of the right ventricle exhibits a spongy appearance in fetal/neonatal hearts

abnormal myocardial trabeculae morphology ( J:40388 )

• trabeculae are disorganized in the right ventricle of fetal/neonatal hearts

thin right ventricle myocardium compact layer ( J:40388 )

• near absence of the compact layer in the right ventricle of fetal/neonatal hearts

embryo

abnormal neural plate morphology ( J:40388 )

• 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

abnormal neural tube morphology ( J:40388 )

• 24% incidence of neural tube defects at E8.5-E14.5

delayed neural tube closure ( J:40388 )

• exhibit neural tube closure defects, however by late gestation, nearly all embryos appear normal, suggesting that neural tube closure eventually proceeds to completion

incomplete rostral neuropore closure ( J:40388 )

• 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

Genotype
MGI:3622645

tg3

• Allelic Composition: Tg(CMV-Gja1)BClo/0
• Genetic Background: involves: CD-1 * SJL/J * SWR/J

mortality/aging

postnatal lethality ( J:40388 )

• viability is reduced, with fewer hemizygous mice detected at weaning

nervous system

abnormal neural tube morphology ( J:40388 )

• 9% incidence of neural tube defects at E8.5-E14.5

cellular

abnormal cell physiology ( J:40388 )

• increase in gap junction communication in embryos

embryo

abnormal neural tube morphology ( J:40388 )

• 9% incidence of neural tube defects at E8.5-E14.5

Genotype
MGI:3622644

tg4

• Allelic Composition: Tg(CMV-Gja1)BClo/0
• Genetic Background: involves: SJL/J * SWR/J

mortality/aging

premature death ( J:40388 )

• mutants showing no visible signs of illness sometimes die suddenly

pregnancy-related premature death ( J:40388 )

• lethality is more common among pregnant and nursing females

nervous system

abnormal neural tube morphology ( J:40388 )

• 14% incidence of neural tube defects at E8.5-E14.5

delayed neural tube closure ( J:40388 )

• incomplete penetrance

abnormal somatic nervous system morphology ( J:40388 )

• both mutants with and without neural tube defects exhibit peripheral ganglia and nerve perturbations that are seen in homozygotes, although less severely

cardiovascular system

abnormal heart morphology ( J:40388 )

• exhibit similar, although less severe, cardiac abnormalities as seen in homozygotes

embryo

abnormal neural tube morphology ( J:40388 )

• 14% incidence of neural tube defects at E8.5-E14.5

delayed neural tube closure ( J:40388 )

• incomplete penetrance