Phenotypes Associated with This Genotype

Genotype
MGI:7263453

• Allelic Composition: Tg(HIV)26Aln/0
• Genetic Background: involves: FVB/N

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

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:84552 )

• chronic cocaine administration decreases median survival more than in controls

premature death ( J:90297 )

• 3 of 16 mice die between 2 and 6 months of age with increased proteinuria

growth/size/body

kidney cyst ( J:90297 )

• microcystic tubular dilatation

decreased body size ( J:90297 )

• mice are smaller, even prior to the onset of proteinuria

renal/urinary system

increased urine protein level ( J:90297 )

• young mice develop proteinuria

• heavy proteinuria in young mice is transient and urine protein levels decrease by 60 days of age

kidney inflammation ( J:90297 )

• perivascular lymphocytic infiltrates are seen in the kidneys of mice over 2 months of age

abnormal kidney morphology ( J:90297 )

• mice develop renal disease

• kidneys range from normal to severely affected in 50-day-old mice

abnormal kidney capillary morphology ( J:90297 )

• capillary lumina are narrowed or obliterated in affected kidneys by a marked expansion of mesangial cell matrix

kidney cyst ( J:90297 )

• microcystic tubular dilatation

podocyte foot process effacement ( J:90297 )

• foot processes of the visceral epithelium are effaced in glomeruli

abnormal renal glomerulus basement membrane morphology ( J:90297 )

• basement membranes are moderately thickened in the kidney epithelium

expanded mesangial matrix ( J:90297 )

glomerulosclerosis ( J:90297 )

• moribund mice exhibit diffuse glomerulosclerosis

dilated renal tubule ( J:90297 )

• microcystic tubular dilatation

cardiovascular system

abnormal artery morphology ( J:90297 )

• older mice sporadically show arteriopathy in the kidney, heart, skeletal muscle, and thymus

abnormal kidney capillary morphology ( J:90297 )

• capillary lumina are narrowed or obliterated in affected kidneys by a marked expansion of mesangial cell matrix

myocardium degeneration ( J:90297 )

• older mice sporadically show myocardial degeneration

prolonged QRS complex duration ( J:84552 )

prolonged QT interval ( J:84552 )

homeostasis/metabolism

increased circulating creatinine level ( J:90297 )

• moribund mice exhibit modestly elevated serum creatinine levels

abnormal blood urea nitrogen level ( J:90297 )

• moribund mice exhibit elevated BUN levels

subcutaneous edema ( J:90297 )

• death is preceded by subcutaneous edema

• however, no edema is seen during the proteinuria phase

increased urine protein level ( J:90297 )

• young mice develop proteinuria

• heavy proteinuria in young mice is transient and urine protein levels decrease by 60 days of age

increased susceptibility to xenobiotic induced morbidity/mortality ( J:84552 )

• chronic cocaine administration decreases median survival more than in controls

increased physiological sensitivity to xenobiotic ( J:84552 )

• acute cocaine administration results in slightly increased in heart rate, increased left ventricular end diastolic dimensions increased left ventricular mass, increased left ventricular fractional shortening, cardiac interstitial fibrosis and myocardial perivascular fibrosis

• however, cocaine administration reduces the increased QRS duration and QT interval seen in untreated mutants

immune system

uveitis ( J:136652 )

• mild iridocyclitis and vitritis in adults with infiltration of mononuclear cells consistent with lymphocytes and monocytes

myositis ( J:90297 )

• older mice sporadically show mild myositis

kidney inflammation ( J:90297 )

• perivascular lymphocytic infiltrates are seen in the kidneys of mice over 2 months of age

integument

subcutaneous edema ( J:90297 )

• death is preceded by subcutaneous edema

• however, no edema is seen during the proteinuria phase

increased skin papilloma incidence ( J:90297 )

• 30% of mice, predominantly female, show papillomatous skin lesions

muscle

myocardium degeneration ( J:90297 )

• older mice sporadically show myocardial degeneration

myositis ( J:90297 )

• older mice sporadically show mild myositis

skeletal muscle degeneration ( J:90297 )

• older mice sporadically show skeletal muscle degeneration

neoplasm

increased skin papilloma incidence ( J:90297 )

• 30% of mice, predominantly female, show papillomatous skin lesions

vision/eye

increased lens epithelium apoptosis ( J:136652 )

• especially in the regions affected by cataractous changes

increased lens fiber apoptosis ( J:136652 )

• especially in the regions affected by cataractous changes

uveitis ( J:136652 )

• mild iridocyclitis and vitritis in adults with infiltration of mononuclear cells consistent with lymphocytes and monocytes

abnormal lens development ( J:136652 )

• lens epithelial cell development abnormalities are detected as early as E14.5, with malformation of an embryonal lens nucleus and poor closure of the lens suture lines

lens vacuoles ( J:136652 )

• lenses show extensive vacuolation

nuclear cataract ( J:136652 )

• cataracts are present by E14.5 and are present in 100% of mice

• cataracts are characterized by the malformation or impaired formation of fetal lens nucleus and poor closure of lens suture lines, indicating congenital nuclear cataracts

spherophakia ( J:136652 )

• lenses that are spherophakic exhibit cortical cataractous changes of vacuoles and globulin formation, liquefaction, and fragmentation

cellular

increased lens epithelium apoptosis ( J:136652 )

• especially in the regions affected by cataractous changes

increased lens fiber apoptosis ( J:136652 )

• especially in the regions affected by cataractous changes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acquired immunodeficiency syndrome		DOID:635		J:84552