Phenotypes associated with this allele

• Allele Symbol: Esx1^tm1Bhr
• Allele Name: targeted mutation 1, Richard R Behringer
• Allele ID: MGI:2153820
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Esx1^tm1Bhr/Esx1^tm1Bhr	involves: 129S7/SvEvBrd * C57BL/6	MGI:2176447
ht2	Esx1^tm1Bhr/Esx1^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3686854
ot3	Esx1^tm1Bhr/Y	involves: 129S7/SvEvBrd * C57BL/6	MGI:2176448

Genotype
MGI:2176447

hm1

• Allelic Composition: Esx1^tm1Bhr/Esx1^tm1Bhr
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

growth/size/body

decreased body size ( J:50590 )

♀ • significantly smaller than controls after birth

♀ • attain normal body weight by maturity

fetal growth retardation ( J:50590 )

♀ • embryo size normal at E13.5

♀ • retardation seen at E16.5 and becomes more severe at E18.5

embryo

abnormal placenta vasculature ( J:50590 )

♀ • laminated trophoblast cells are missing adjacent to fetal capillaries

♀ • functional deficiency in the fetal components of placenta

♀ • fetal blood vessels are abnormally branched and irregular in diameter

♀ • fetal blood vessels become dilated late in gestation and endothelial cells are separated from trophoblast

increased placenta weight ( J:50590 )

♀ • larger and heavier placentas than in controls at E13.5

♀ • placental weight difference relative to controls greater at E14.5 than E18.5

abnormal trophoblast layer morphology ( J:50590 )

♀ • extensive trophoblast aggregates in the future labyrinthine layer at E11.5

♀ • disrupted demarcation between spongiotrophoblast and labyrinthine layer at E14.5 with spongiotrophoblast wedges deeply imbedded in the labyrinthine layer

♀ • laminated trophoblast cells missing

abnormal spongiotrophoblast layer morphology ( J:50590 )

♀ • disrupted demarcation between spongiotrophoblast and labyrinthine layer at E14.5 with spongiotrophoblast wedges deeply imbedded in the labyrinthine layer

increased trophoblast glycogen cell number ( J:50590 )

♀ • excessive numbers of glycogen cells

abnormal syncytiotrophoblast morphology ( J:50590 )

♀ • inner syncytiotrophoblast is abnormal having an accumulation of smooth vacuoles

abnormal placenta development ( J:50590 )

♀ • edematous at E13.5

♀ • basal layer of placenta larger than controls with fluid filled cysts

cardiovascular system

abnormal placenta vasculature ( J:50590 )

♀ • laminated trophoblast cells are missing adjacent to fetal capillaries

♀ • functional deficiency in the fetal components of placenta

♀ • fetal blood vessels are abnormally branched and irregular in diameter

♀ • fetal blood vessels become dilated late in gestation and endothelial cells are separated from trophoblast

Genotype
MGI:3686854

ht2

• Allelic Composition: Esx1^tm1Bhr/Esx1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

growth/size/body

growth/size/body region phenotype ( J:50590 )

♀N • abnormal phenotype only occurs when the mutant allele is maternally inherited

decreased body size ( J:50590 )

♀ • significantly smaller than controls after birth

♀ • attain normal body weight by maturity

fetal growth retardation ( J:50590 )

♀ • embryo size normal at E13.5

♀ • retardation seen at E16.5 and becomes more severe at E18.5

embryo

embryo phenotype ( J:50590 )

♀N • abnormal phenotype only occurs when the mutant allele is maternally inherited

abnormal placenta vasculature ( J:50590 )

♀ • laminated trophoblast cells are missing adjacent to fetal capillaries

♀ • functional deficiency in the fetal components of placenta

♀ • fetal blood vessels are abnormally branched and irregular in diameter

♀ • fetal blood vessels become dilated late in gestation and endothelial cells are separated from trophoblast

increased placenta weight ( J:50590 )

♀ • larger and heavier placentas than in controls at E13.5

♀ • placental weight difference relative to controls greater at E14.5 than E18.5

abnormal trophoblast layer morphology ( J:50590 )

♀ • extensive trophoblast aggregates in the future labyrinthine layer at E11.5

♀ • disrupted demarcation between spongiotrophoblast and labyrinthine layer at E14.5 with spongiotrophoblast wedges deeply imbedded in the labyrinthine layer

♀ • laminated trophoblast cells missing

abnormal spongiotrophoblast layer morphology ( J:50590 )

♀ • disrupted demarcation between spongiotrophoblast and labyrinthine layer at E14.5 with spongiotrophoblast wedges deeply imbedded in the labyrinthine layer

increased trophoblast glycogen cell number ( J:50590 )

♀ • excessive numbers of glycogen cells

abnormal syncytiotrophoblast morphology ( J:50590 )

♀ • inner syncytiotrophoblast is abnormal having an accumulation of smooth vacuoles

abnormal placenta development ( J:50590 )

♀ • edematous at E13.5

♀ • basal layer of placenta larger than controls with fluid filled cysts

cardiovascular system

abnormal placenta vasculature ( J:50590 )

♀ • laminated trophoblast cells are missing adjacent to fetal capillaries

♀ • functional deficiency in the fetal components of placenta

♀ • fetal blood vessels are abnormally branched and irregular in diameter

♀ • fetal blood vessels become dilated late in gestation and endothelial cells are separated from trophoblast

Genotype
MGI:2176448

ot3

• Allelic Composition: Esx1^tm1Bhr/Y
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

growth/size/body

decreased body size ( J:50590 )

♂ • significantly smaller than controls after birth

♂ • attain normal body weight by maturity

fetal growth retardation ( J:50590 )

♂ • embryo size normal at E13.5

♂ • retardation seen at E16.5 and becomes more severe at E18.5

embryo

abnormal placenta vasculature ( J:50590 )

♂ • laminated trophoblast cells are missing adjacent to fetal capillaries

♂ • functional deficiency in the fetal components of placenta

♂ • fetal blood vessels are abnormally branched and irregular in diameter

♂ • fetal blood vessels become dilated late in gestation and endothelial cells are separated from trophoblast

increased placenta weight ( J:50590 )

♂ • larger and heavier placentas than in controls at E13.5

♂ • placental weight difference relative to controls greater at E14.5 than E18.5

abnormal trophoblast layer morphology ( J:50590 )

♂ • extensive trophoblast aggregates in the future labyrinthine layer at E11.5

♂ • disrupted demarcation between spongiotrophoblast and labyrinthine layer at E14.5 with spongiotrophoblast wedges deeply imbedded in the labyrinthine layer

♂ • laminated trophoblast cells missing

abnormal spongiotrophoblast layer morphology ( J:50590 )

♂ • disrupted demarcation between spongiotrophoblast and labyrinthine layer at E14.5 with spongiotrophoblast wedges deeply imbedded in the labyrinthine layer

increased trophoblast glycogen cell number ( J:50590 )

♂ • excessive numbers of glycogen cells

abnormal syncytiotrophoblast morphology ( J:50590 )

♂ • inner syncytiotrophoblast is abnormal having an accumulation of smooth vacuoles

abnormal placenta development ( J:50590 )

♂ • edematous at E13.5

♂ • basal layer of placenta larger than controls with fluid filled cysts

cardiovascular system

abnormal placenta vasculature ( J:50590 )

♂ • laminated trophoblast cells are missing adjacent to fetal capillaries

♂ • functional deficiency in the fetal components of placenta

♂ • fetal blood vessels are abnormally branched and irregular in diameter

♂ • fetal blood vessels become dilated late in gestation and endothelial cells are separated from trophoblast