Phenotypes Associated with This Genotype

Genotype
MGI:4438111

• Allelic Composition: Ncf1^tm1Shl/Ncf1^tm1Shl
• Genetic Background: B6.129S2-Ncf1^tm1Shl

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

growth/size/body

cardiac hypertrophy ( J:133916 )

• greatly reduced after myocardial infarction relative to controls

abnormal postnatal growth ( J:142617 )

• weight gain on a high fat diet is more moderate than in controls

cardiovascular system

abnormal angiogenesis ( J:142617 )

• angiogenic response after carotid ligation is more moderate than in controls

abnormal heart morphology ( J:133916 )

cardiac hypertrophy ( J:133916 )

• greatly reduced after myocardial infarction relative to controls

dilated heart left ventricle ( J:133916 )

• left ventricular cavity dilation is substantially reduced after myocardial infarction

abnormal cardiovascular system physiology ( J:111142 )

abnormal cardiac muscle contractility ( J:133916 )

• left ventricular ejection fraction is better preserved than in infarcted controls

abnormal response to cardiac infarction ( J:133916 )

• improved survival rate (72% vs 48% for controls)

• reduced apoptosis at the left ventricular border zone

• myocardial hypertrophy largely prevented

increased systemic arterial blood pressure ( J:111142 )

• elevated blood pressure between 6-12 weeks of age

• blood pressure slowly decreases with age

abnormal vascular smooth muscle physiology ( J:111142 )

• endothelium dependent relaxation by acetyl choline in aortic rings is attenuated at 12 weeks

abnormal vascular wound healing ( J:142617 )

• more moderate neointimal formation after carotid ligation relative to controls

immune system

abnormal inflammatory response ( J:142617 )

• inflammatory response after carotid ligation is more moderate than in controls

granulomatous inflammation ( J:111142 )

• lung granuloma formation after 12 weeks if not treated with antibiotics

• lung granuloma formation after 20 weeks when treated with antibiotics

homeostasis/metabolism

abnormal response to cardiac infarction ( J:133916 )

• myocardial hypertrophy largely prevented

• improved survival rate (72% vs 48% for controls)

• reduced apoptosis at the left ventricular border zone

abnormal vascular wound healing ( J:142617 )

• more moderate neointimal formation after carotid ligation relative to controls

increased circulating renin level ( J:111142 )

• at 12 weeks

increased angiotensin I-converting enzyme activity ( J:111142 )

• elevated ACE activity in tissues at 12 weeks of age

nervous system

enhanced long-term potentiation ( J:111410 )

• long lasting phase of LTP is slightly enhanced

reduced long-term potentiation ( J:111410 )

• completely abrogated in hippocampal slices

behavior/neurological

impaired cued conditioning behavior ( J:111410 )

• impaired contextual fear response

• cued memory is normal

abnormal spatial learning ( J:111410 )

• small but significant deficits in early training trials in water maze tests

• spatial learning impairments

abnormal locomotor activation ( J:111410 )

• slightly increased time spent in the center in an open field test

muscle

abnormal cardiac muscle contractility ( J:133916 )

• left ventricular ejection fraction is better preserved than in infarcted controls

abnormal vascular smooth muscle physiology ( J:111142 )

• endothelium dependent relaxation by acetyl choline in aortic rings is attenuated at 12 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chronic granulomatous disease		DOID:3265	OMIM:PS306400	J:111142