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Phenotypes Associated with This Genotype
Genotype
MGI:2175179
Allelic
Composition
Ntf3tm1Par/Ntf3tm1Par
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ntf3tm1Par mutation (0 available); any Ntf3 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 10% die at birth (J:67562)
• about 10% die at birth (J:67562)
• 80% die within 24-48 hours and a few survive up to 16 days (J:67562)
• 80% die within 24-48 hours and a few survive up to 16 days (J:67562)

growth/size/body
• rare postnatal survivors fail to thrive and body weight is 25-50% that of controls, however weight is normal at birth (J:67562)
• rare postnatal survivors fail to thrive and body weight is 25-50% that of controls, however weight is normal at birth (J:67562)

nervous system
• reduction of neurons in sensory ganglia, however motor neuron numbers are normal (J:44286)
• sensory neuron loss occurs from E12.5 to P0.5 (J:44286)
• reduction of neurons in sensory ganglia, however motor neuron numbers are normal (J:44286)
• sensory neuron loss occurs from E12.5 to P0.5 (J:44286)
• 47% reduction of neurons in the geniculate ganglion (J:44286)
• 47% reduction of neurons in the geniculate ganglion (J:44286)
• 44% reduction of neurons in the nodose/petrosal ganglion (J:44286)
• 44% reduction of neurons in the nodose/petrosal ganglion (J:44286)
• 68% reduction of neurons in the trigeminal ganglion (J:44286)
• 68% reduction of neurons in the trigeminal ganglion (J:44286)
• 65% reduction of trigeminal ganglion neurons at P0 (J:60927)
• 65% reduction of trigeminal ganglion neurons at P0 (J:60927)
• 44% reduction of neurons in the nodose/petrosal ganglion (J:44286)
• 44% reduction of neurons in the nodose/petrosal ganglion (J:44286)
• all large-diameter TrkC (Ntrk3)+ neurons are lost unlike in wild-type mice (J:154926)
• all large-diameter TrkC (Ntrk3)+ neurons are lost unlike in wild-type mice (J:154926)
• loss of proprioceptive neurons as observe no Ia afferent projections to the motor neurons in spinal cords at any axial level examined at E15.5 (J:67562)
• loss of proprioceptive neurons as observe no Ia afferent projections to the motor neurons in spinal cords at any axial level examined at E15.5 (J:67562)
• 79% reduction of neurons in the L4 dorsal root ganglion (J:44286)
• 79% reduction of neurons in the L4 dorsal root ganglion (J:44286)
• 36% and 78% reduction of dorsal root ganglion neurons at E13 and P0, respectively (J:60927)
• 36% and 78% reduction of dorsal root ganglion neurons at E13 and P0, respectively (J:60927)
• reduction of spinal cord diamater (J:67562)
• reduction of spinal cord diamater (J:67562)

behavior/neurological
• exhibit radically abnormal movements (J:67562)
• exhibit radically abnormal movements (J:67562)

cardiovascular system
• homozygotes display a range of heart defects that are seen in various combinations (J:35639)
• homozygotes display a range of heart defects that are seen in various combinations (J:35639)
• 2 of 15 homozgyotes with large ventricular septal defects and cardiac outflow tract abnormalities exhibit dilation of the pulmonary artery (J:35639)
• 2 of 15 homozgyotes with large ventricular septal defects and cardiac outflow tract abnormalities exhibit dilation of the pulmonary artery (J:35639)
• premature closure of the ductus arteriosus secondary to medial hypertrophy is seen in utero or immediately after birth in all homozygotes (J:35639)
• premature closure of the ductus arteriosus secondary to medial hypertrophy is seen in utero or immediately after birth in all homozygotes (J:35639)
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein (J:35639)
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein (J:35639)
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein (J:35639)
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein (J:35639)
• at E9.5, exhibit developmental anomalies of the great vessels, including delay in the primitive myofibril organization of the truncus arteriosis, hypoplasia of the sinus venosus and atrial enlargement (J:35639)
• at E9.5, exhibit developmental anomalies of the great vessels, including delay in the primitive myofibril organization of the truncus arteriosis, hypoplasia of the sinus venosus and atrial enlargement (J:35639)
• 50% exhibit defects in the sinus venosus (J:35639)
• 50% exhibit defects in the sinus venosus (J:35639)
• at E9.5, detect hypoplasia of the sinus venosus (J:35639)
• at E9.5, detect hypoplasia of the sinus venosus (J:35639)
• develops in 1 of 15 homozygotes (J:35639)
• develops in 1 of 15 homozygotes (J:35639)
• 2 of 15 homozgyotes with large ventricular septal defects and cardiac outflow tract abnormalities exhibit an overriding aorta (J:35639)
• 2 of 15 homozgyotes with large ventricular septal defects and cardiac outflow tract abnormalities exhibit an overriding aorta (J:35639)
• atria displays decreased trabeculations (J:35639)
• atria displays decreased trabeculations (J:35639)
• myocyte thinning of the atrial wall (J:35639)
• myocyte thinning of the atrial wall (J:35639)
• large secundum atrial septal defects (J:35639)
• large secundum atrial septal defects (J:35639)
• both atria are dilated (J:35639)
• both atria are dilated (J:35639)
• enlarged and globular heart (J:35639)
• enlarged and globular heart (J:35639)
• medial hypertrophy (J:35639)
• medial hypertrophy (J:35639)
• homozygotes exhibit variable valvular abnormalities (J:35639)
• homozygotes exhibit variable valvular abnormalities (J:35639)
• dilation of the atrioventricular annuli is the most consistent defect observed (J:35639)
• dilation of the atrioventricular annuli is the most consistent defect observed (J:35639)
• 50% exhibit thickened leaflets of the aortic valve or mitral valve (J:35639)
• 50% exhibit thickened leaflets of the aortic valve or mitral valve (J:35639)
• 5 of 15 show pulmonic stenosis with abnormally thickened semilunar valve (J:35639)
• 5 of 15 show pulmonic stenosis with abnormally thickened semilunar valve (J:35639)
• 3 of 15 display a ventricular spetal defect in the region of the membranous septum (J:35639)
• 3 of 15 display a ventricular spetal defect in the region of the membranous septum (J:35639)
• left ventricular size is variable (J:35639)
• left ventricular size is variable (J:35639)
• 2 of 15 homozygotes with large ventricular septal defects also have cardiac outflow tract abnormalities (J:35639)
• 2 of 15 homozygotes with large ventricular septal defects also have cardiac outflow tract abnormalities (J:35639)
• 50% exhibit thickened leaflets of the aortic valve or mitral valve (J:35639)
• 50% exhibit thickened leaflets of the aortic valve or mitral valve (J:35639)
• 3 of 15 show subpulmonic stenosis (J:35639)
• 3 of 15 show subpulmonic stenosis (J:35639)
• 5 of 15 show pulmonic stenosis with abnormally thickened semilunar valve (J:35639)
• 5 of 15 show pulmonic stenosis with abnormally thickened semilunar valve (J:35639)
• 50% exhibit aneurismal dilation (J:35639)
• 50% exhibit aneurismal dilation (J:35639)
• intra-alveolar hemorrhage (J:35639)
• intra-alveolar hemorrhage (J:35639)
• resting heart rate is about 250 beats/min compared to 350 beats/min in wild-type at 8 hours after birth (J:35639)
• display a sensitivity to transthoracic pressure during echocardiography imaging, with significant bradycardia that recovers immediately on removal of the imaging catheter, which may reflect an abnormal autonomic tone (J:35639)
• resting heart rate is about 250 beats/min compared to 350 beats/min in wild-type at 8 hours after birth (J:35639)
• display a sensitivity to transthoracic pressure during echocardiography imaging, with significant bradycardia that recovers immediately on removal of the imaging catheter, which may reflect an abnormal autonomic tone (J:35639)

homeostasis/metabolism
• seen in all mutants (J:35639)
• seen in all mutants (J:35639)

muscle
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein (J:35639)
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein (J:35639)
• atria displays decreased trabeculations (J:35639)
• atria displays decreased trabeculations (J:35639)

respiratory system
• intra-alveolar hemorrhage (J:35639)
• intra-alveolar hemorrhage (J:35639)
• seen in all mutants (J:35639)
• seen in all mutants (J:35639)

Mouse Models of Human Disease
OMIM ID Ref(s)
Atrial Septal Defect 1; ASD1 108800 J:35639
Tetralogy of Fallot; TOF 187500 J:35639


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory