Phenotypes associated with this allele

• Allele Symbol: Ncoa6^tm1Jxu
• Allele Name: targeted mutation 1, Jianming Xu
• Allele ID: MGI:2445463
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ncoa6^tm1Jxu/Ncoa6^tm1Jxu	involves: 129S6/SvEvTac * C57BL/6	MGI:3043611

Genotype
MGI:3043611

hm1

• Allelic Composition: Ncoa6^tm1Jxu/Ncoa6^tm1Jxu
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

Small size and heart abnormalities in Ncoa6^tm1Jxu/Ncoa6^tm1Jxu embryos

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:80175 )

• the majority of mutant embryos died between 9.75 and 11.5 dpc

cardiovascular system

disorganized myocardium ( J:80175 )

• a significant portion of the endocardium was detached from the myocardium

heart hypoplasia ( J:80175 )

• cardiac hypoplasia correlated with a decrease in myocardial proliferation

trabecula carnea hypoplasia ( J:80175 )

• the trabeculaes appeared thinner and malformed

thin ventricular wall ( J:80175 )

• the ventricular and atrial walls were significantly thinner

• the compact zone of the ventricular wall was severely altered

pericardial effusion ( J:80175 )

• at 10.5 dpc, ~15-20% of homozygous embryos had edematous pools of blood in their hearts and/or displayed severe pericardial effusion

decreased fetal cardiomyocyte proliferation ( J:80175 )

embryo

embryonic growth retardation ( J:80175 )

• at 10 and 10.5 dpc, mutant embryos displayed severe growth restriction

decreased embryo size ( J:80175 )

• by 9.75 dpc, homozygotes were smaller than wild-type

abnormal trophoblast giant cell morphology ( J:80175 )

• trophoblast giant cells exhibited massive erythrophagocytosis activity

increased trophoblast giant cell number ( J:80175 )

• mutant placentas displayed a higher number of trophoblast giant cells

decreased spongiotrophoblast cell number ( J:80175 )

• mutant placentas show a lower number of spongiotrophoblasts and a much lower number of labyrinthine trophoblasts

abnormal syncytiotrophoblast morphology ( J:80175 )

• syncytiotrophoblasts lining the wall of maternal blood sinuses appeared loosely attached or detached

• syncytiotrophoblasts exhibited massive erythrophagocytosis activity

absent placental labyrinth ( J:80175 )

• the labyrinth layer failed to form

• fetal blood vessels failed to invade into the presumptive labyrinth even by 10.5 dpc

abnormal placenta development ( J:80175 )

• maternal blood sinuses appeared dilated or ruptured

• mutant placentas lacked the typical three-cell-layered epithelial barrier between fetal vessels and maternal blood sinuses

• syncytiotrophoblasts lining the wall of maternal blood sinuses appeared loosely attached or detached

• syncytiotrophoblasts and trophoblast giant cells exhibited massive erythrophagocytosis activity

growth/size/body

embryonic growth retardation ( J:80175 )

• at 10 and 10.5 dpc, mutant embryos displayed severe growth restriction

decreased embryo size ( J:80175 )

• by 9.75 dpc, homozygotes were smaller than wild-type

muscle

trabecula carnea hypoplasia ( J:80175 )

• the trabeculaes appeared thinner and malformed

disorganized myocardium ( J:80175 )

• a significant portion of the endocardium was detached from the myocardium

decreased fetal cardiomyocyte proliferation ( J:80175 )

homeostasis/metabolism

pericardial effusion ( J:80175 )

• at 10.5 dpc, ~15-20% of homozygous embryos had edematous pools of blood in their hearts and/or displayed severe pericardial effusion

cellular

decreased fetal cardiomyocyte proliferation ( J:80175 )