Phenotypes Associated with This Genotype

Genotype
MGI:3052952

• Allelic Composition: Chm^tm1Jvdh/Y
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

prenatal lethality, complete penetrance ( J:40673 )

♂

embryonic lethality during organogenesis, complete penetrance ( J:92328 )

♂ • no live mutants are found beyond E11.5

cardiovascular system

decreased angiogenesis ( J:92328 )

♂ • at E11.5 there is an almost complete absence of fetal blood vessels in the labyrinth and chorionic plate

♂ • the primitive vascular plexis forms on the yolk sac but is not remodeled into an organized vascular network

embryo

embryonic growth retardation ( J:92328 )

♂ • growth retardation is seen by E7.5

♂ • growth retardation is more severe in hemizygous males compared to heterozygous females

small ectoplacental cone ( J:92328 )

♂ • at E7.5 the ectoplacental cone is smaller compared to wild-type

abnormal placenta labyrinth morphology ( J:92328 )

♂ • at E11.5 the demarcation between the labyrinthine and spongiotrophoblast layers is disrupted

thin placenta labyrinth ( J:92328 )

♂ • at E11.5 the labyrinthine layer is thinner than normal

absent placental labyrinth ( J:92328 )

♂ • in hemizygous males the labyrinth layer is sometimes absent

small placenta ( J:92328 )

♂ • at E7.5 the chorionic placenta is smaller compared to wild-type

♂ • at E11.5 mutant placentas are smaller compared to wild-type

abnormal trophoblast layer morphology ( J:92328 )

♂ • the chorionic trophoblast remains densely packed at the base of the placenta at E7.5 and contains more giant cells compared to wild-type mice

abnormal spongiotrophoblast layer morphology ( J:92328 )

♂ • at E11.5 the spongiotrophoblast layer is thinner than normal however the giant cell population is expanded and may form multiple cell layers unlike in wild-type mice

abnormal visceral yolk sac morphology ( J:92328 )

♂ • the mesoderm and endoderm tend to separate resulting in a rough appearing yolk sac in mutants

abnormal visceral yolk sac blood island morphology ( J:92328 )

♂ • the number of blood islands is reduced in the yolk sac of mutant mice

failure of chorioallantoic fusion ( J:92328 )

♂ • the allantois fails to invade the chorionic plate

abnormal vitelline vascular remodeling ( J:92328 )

♂ • the primitive vascular plexis forms on the yolk sac but is not remodeled into an organized vascular network

growth/size/body

embryonic growth retardation ( J:92328 )

♂ • growth retardation is seen by E7.5

♂ • growth retardation is more severe in hemizygous males compared to heterozygous females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	choroideremia	DOID:9821	OMIM:303100	J:40673