Phenotypes Associated with This Genotype

Genotype
MGI:5787933

• Allelic Composition: Emg1^tm1.1Btr/Emg1^tm1.1Btr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:230556 )

• mice die between E8.5 and E12.5

embryo

embryonic growth retardation ( J:230556 )

decreased embryo size ( J:230556 )

incomplete rostral neuropore closure ( J:230556 )

• open cranial neural tubes in half of mice at E10.5 to E12.5

open neural tube ( J:230556 )

• in some embryos

• however, the spinal neural tube closes by E12.5

wavy neural tube ( J:230556 )

• in one of two mice recovered at E12.5

abnormal placenta labyrinth morphology ( J:230556 )

• less extensive at E11.5 and E12.5 with fewer fetal red blood cells

• however, placenta is normal at E9.5

nervous system

incomplete rostral neuropore closure ( J:230556 )

• open cranial neural tubes in half of mice at E10.5 to E12.5

open neural tube ( J:230556 )

• in some embryos

• however, the spinal neural tube closes by E12.5

wavy neural tube ( J:230556 )

• in one of two mice recovered at E12.5

abnormal telencephalon development ( J:230556 )

• collapsed telencephalic vesicle in one of two mice recovered at E12.5

exencephaly ( J:230556 )

• in one of two mice recovered at E12.5

cellular

increased apoptosis ( J:230556 )

• in E7.5 to E9.5 embryos

decreased cell proliferation ( J:230556 )

• in E7.5 to E9.5 embryos

growth/size/body

embryonic growth retardation ( J:230556 )

decreased embryo size ( J:230556 )

hematopoietic system

decreased erythrocyte cell number ( J:230556 )

• fewer fetal red blood cells at E11.5 and E12.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bowen-Conradi syndrome		DOID:0050684	OMIM:211180	J:230556