Mouse Genome Informatics
hm
    Ntf3tm1Par/Ntf3tm1Par
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• about 10% die at birth (J:67562)
• 80% die within 24-48 hours and a few survive up to 16 days

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

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)
• 47% reduction of neurons in the geniculate ganglion
• 44% reduction of neurons in the nodose/petrosal ganglion
• 68% reduction of neurons in the trigeminal ganglion (J:44286)
• 65% reduction of trigeminal ganglion neurons at P0 (J:60927)
• 44% reduction of neurons in the nodose/petrosal ganglion
• all large-diameter TrkC (Ntrk3)+ neurons are lost unlike in wild-type mice
• 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
• 79% reduction of neurons in the L4 dorsal root ganglion
• 36% and 78% reduction of dorsal root ganglion neurons at E13 and P0, respectively
• reduction of spinal cord diamater

behavior/neurological
• exhibit radically abnormal movements

cardiovascular system
• homozygotes display a range of heart defects that are seen in various combinations
• 2 of 15 homozgyotes with large ventricular septal defects and cardiac outflow tract abnormalities exhibit dilation of the pulmonary artery
• premature closure of the ductus arteriosus secondary to medial hypertrophy is seen in utero or immediately after birth in all homozygotes
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein
• 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
• 50% exhibit defects in the sinus venosus
• at E9.5, detect hypoplasia of the sinus venosus
• develops in 1 of 15 homozygotes
• 2 of 15 homozgyotes with large ventricular septal defects and cardiac outflow tract abnormalities exhibit an overriding aorta
• atria displays decreased trabeculations
• myocyte thinning of the atrial wall
• large secundum atrial septal defects
• both atria are dilated
• enlarged and globular heart
• medial hypertrophy
• homozygotes exhibit variable valvular abnormalities
• dilation of the atrioventricular annuli is the most consistent defect observed
• 50% exhibit thickened leaflets of the aortic valve or mitral valve
• 5 of 15 show pulmonic stenosis with abnormally thickened semilunar valve
• 3 of 15 display a ventricular spetal defect in the region of the membranous septum
• left ventricular size is variable
• 2 of 15 homozygotes with large ventricular septal defects also have cardiac outflow tract abnormalities
• 50% exhibit thickened leaflets of the aortic valve or mitral valve
• 3 of 15 show subpulmonic stenosis
• 5 of 15 show pulmonic stenosis with abnormally thickened semilunar valve
• 50% exhibit aneurismal dilation
• intra-alveolar hemorrhage
• resting heart rate is about 250 beats/min compared to 350 beats/min in wild-type at 8 hours after birth
• 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

homeostasis/metabolism
• seen in all mutants

muscle
• 50% exhibit marked attenuation of the smooth muscle layer of the pulmonary vein
• atria displays decreased trabeculations

respiratory system
• intra-alveolar hemorrhage
• seen in all mutants

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