Phenotypes Associated with This Genotype

Genotype
MGI:3577900

• Allelic Composition: Fktn^tm1Ttd/Fktn^tm1Ttd
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:97950 )

• survival rate decreased gradually during the egg cylinder stage, with no survival beyond E9.5

embryonic lethality between implantation and placentation, incomplete penetrance ( J:97950 )

• survival rate decreased gradually during the egg cylinder stage, with no survival beyond E9.5

embryo

increased embryonic epiblast cell apoptosis ( J:97950 )

• increased number of apoptotic cells in E6.5 and E7.5 homozygous null embryos, predominantly in the epiblast region

abnormal developmental patterning ( J:97950 )

• at E6.5 and E7.5, some homozygous null embryos exhibited distorted and folded shapes

• border between epiblast and visceral endoderm is obscure in some E6.5 and E7.5 homozygous null embryos

embryonic growth arrest ( J:97950 )

• some homozygous null embryos arrest at E7.5

decreased embryo size ( J:97950 )

• some embryos were smaller than wildtype at E7.5 and E8.5, with larger extraembryonic portions than embryonic portions at E7.5

abnormal egg cylinder morphology ( J:97950 )

• the axis of the egg cylinder is distorted in some E6.5 embryos, so that the ectoplacental cone is attached to the apex

abnormal Reichert's membrane morphology ( J:97950 )

• Reichert's membrane appeared wavy

abnormal Reichert's membrane thickness ( J:97950 )

• Reichert's membrane exhibited variable thickness

absent Reichert's membrane ( J:97950 )

• concave face of the folded embryo lacked Reichert's membrane

abnormal visceral yolk sac cavity morphology ( J:97950 )

• maternal red blood cells were present in the yolk sac cavity of some E6.5 homozygous null embryos

growth/size/body

decreased embryo size ( J:97950 )

• some embryos were smaller than wildtype at E7.5 and E8.5, with larger extraembryonic portions than embryonic portions at E7.5

cellular

increased embryonic epiblast cell apoptosis ( J:97950 )

• increased number of apoptotic cells in E6.5 and E7.5 homozygous null embryos, predominantly in the epiblast region

impaired basement membrane formation ( J:97950 )

• basement membrane was thin, partly detached from the plasma membrane, and partly breached

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fukuyama congenital muscular dystrophy		DOID:0050559	OMIM:253800	J:97950