Phenotypes associated with this allele

• Allele Symbol: Chm^tm1Jvdh
• Allele Name: targeted mutation 1, Jose A J M van den Hurk
• Allele ID: MGI:3052865
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Chm^tm1Jvdh/Chm^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3052938
ht2	Chm^tm1Jvdh/Chm^+	involves: 129P2/OlaHsd * C57BL/6 * SMZ	MGI:3052948
ot3	Chm^tm1Jvdh/Y	involves: 129P2/OlaHsd * C57BL/6	MGI:3052952

Genotype
MGI:3052938

ht1

• Allelic Composition: Chm^tm1Jvdh/Chm⁺
• 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 )

♀ • complete embryonic lethality is seen in female mice with maternal inheritance of the mutant allele and in hemizygous mutant males thus female heterozygotes can only be generated using male chimeras

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

♀ • complete embryonic lethality is seen in female mice with maternal inheritance of the mutant allele and in hemizygous mutant males thus female heterozygotes can only be generated using male chimeras

♀ • 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 )

♀ • by E7.5

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 labyrinthine layer is thinner than normal and the demarcation between the labyrinthine and spongiotrophoblast layers is disrupted

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 )

♀ • by E7.5

vision/eye

decreased retina photoreceptor cell number ( J:40673 )

♀ • in F1 females the number of photoreceptor cell bodies in the outer nuclear layer is reduced resulting in an irregular border between the outer nuclear layer and the outer plexiform layer

nervous system

decreased retina photoreceptor cell number ( J:40673 )

♀ • in F1 females the number of photoreceptor cell bodies in the outer nuclear layer is reduced resulting in an irregular border between the outer nuclear layer and the outer plexiform layer

Genotype
MGI:3052948

ht2

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:92328 )

♀ • 10 viable heterozygous females were found in an interspecies cross with Mus spretus compared to 31 wild-type females from the same cross

♀ • only 1 viable female was found when a backcross of the F1 heterozygous hybrid females to C57BL/6 was performed

vision/eye

vision/eye phenotype ( J:92328 )

♀N • 3 month old hybrid mutant females show no signs of photoreceptor loss unlike heterozygous females on a pure Mus musculus background

Genotype
MGI:3052952

ot3

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

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