Phenotypes Associated with This Genotype

Genotype
MGI:5703970

• Allelic Composition: Asb4^tm1.2Cpat/Asb4^tm1.2Cpat
• Genetic Background: involves: 129/SvEv

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

embryo

embryonic growth arrest ( J:213825 )

• fetal growth of some embryos is halted at E10.5-E11.5

abnormal extraembryonic tissue morphology ( J:213825 )

abnormal placenta vasculature ( J:213825 )

• fewer mature endothelial-like cells in the placenta at E17.5

decreased trophoblast giant cell number ( J:213825 )

• trophoblast stem cells do not differentiate in culture into trophoblast giant cells

abnormal placenta labyrinth morphology ( J:213825 )

• invasion of the fetal component of the placenta into the maternal decidual layers is more shallow than in controls

reproductive system

abnormal pregnancy ( J:238841 )

♀ • females deliver prematurely at 19.5 dpc

♀ • females provided with nicotinamide in their drinking water show prolonged pregnancies and deliver pups at 20.5 dpc

decreased litter size ( J:213825 , J:238841 )

• smaller litters produced due to mid-gestation spontaneous abortion (J:213825)

• fewer homozygotes produced from heterozygote matings (J:213825)

♀ • dams have about half the number of live fetuses at 18.5 dpc than wild-type dams (J:238841)

♀ • nicotinamide treatment of dams prevents loss of embryos (J:238841)

cardiovascular system

abnormal glomerular capillary morphology ( J:238841 )

♀ • pregnant females exhibit endotheliosis as indicated by a decrease in the open capillary areas of the renal glomeruli of dams

♀ • treatment with nicotinamide prevents endotheliois

abnormal placenta vasculature ( J:213825 )

• fewer mature endothelial-like cells in the placenta at E17.5

abnormal blood pressure regulation ( J:213825 )

♀ • increased blood pressures in pregnant females from E14 to term

hypertension ( J:238841 )

♀ • females exhibit hypertension by the third week of pregnancy

♀ • treatment with nicotinamide prevents the increase in systolic blood pressure in pregnant females

renal/urinary system

abnormal glomerular capillary morphology ( J:238841 )

♀ • pregnant females exhibit endotheliosis as indicated by a decrease in the open capillary areas of the renal glomeruli of dams

♀ • treatment with nicotinamide prevents endotheliois

abnormal urine albumin level ( J:213825 )

♀ • increased albumin:creatinine ratios in the urine of pregnant females at late stages of pregnancy

albuminuria ( J:238841 )

♀ • females develop albuminuria by the 3rd week of pregnancy

♀ • treatment with nicotinamide prevents the development of albuminuria in pregnant females

abnormal glomerular mesangium morphology ( J:238841 )

♀ • pregnant females exhibit mesangial expansion as indicated by an increase in PAS-positive area in glomeruli

♀ • treatment with nicotinamide prevents mesangial expansion

homeostasis/metabolism

abnormal urine albumin level ( J:213825 )

♀ • increased albumin:creatinine ratios in the urine of pregnant females at late stages of pregnancy

albuminuria ( J:238841 )

♀ • females develop albuminuria by the 3rd week of pregnancy

♀ • treatment with nicotinamide prevents the development of albuminuria in pregnant females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pre-eclampsia		DOID:10591	OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592	J:238841