Phenotypes associated with this allele

• Allele Symbol: Ascl2^tm1Alj
• Allele Name: targeted mutation 1, Alexandra L Joyner
• Allele ID: MGI:2153832
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ascl2^tm1Alj/Ascl2^tm1Alj	either: (involves: 129) or (involves: 129 * CD-1)	MGI:3525591
hm2	Ascl2^tm1Alj/Ascl2^tm1Alj	involves: 129 * CD-1	MGI:3773267
ht3	Ascl2^tm1Alj/Ascl2^+	involves: 129 * CD-1	MGI:3773268
cx4	Ascl2^tm1Alj/Ascl2^+ Kcnq1ot1^tm1.1Mjh/Kcnq1ot1^+	involves: 129 * C57BL/6 * ICR	MGI:3772941

Genotype
MGI:3525591

hm1

• Allelic Composition: Ascl2^tm1Alj/Ascl2^tm1Alj
• Genetic Background: either: (involves: 129) or (involves: 129 * CD-1)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:20553 )

• embryos die by E9.5- E10.5

embryo

abnormal placental labyrinth vasculature morphology ( J:20553 )

• lacked the vascular organization of normal placentas

abnormal chorion morphology ( J:20553 )

• normal chorio-allantoic fusion, but chorion remained compact

absent spongiotrophoblast ( J:20553 )

• by E9.5

abnormal placenta development ( J:20553 )

• ectopic secondary giant cells: present and formed multiple cell layers

cardiovascular system

abnormal placental labyrinth vasculature morphology ( J:20553 )

• lacked the vascular organization of normal placentas

Genotype
MGI:3773267

hm2

• Allelic Composition: Ascl2^tm1Alj/Ascl2^tm1Alj
• Genetic Background: involves: 129 * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:23260 )

• embryos die between 9.5 and 10.5 days post-coitum from placenta failure

embryo

abnormal chorion morphology ( J:23260 )

• chorion membrane is underdeveloped at time of embryo death

absent spongiotrophoblast ( J:23260 )

• spongiotrophoblast fails to develop

Genotype
MGI:3773268

ht3

• Allelic Composition: Ascl2^tm1Alj/Ascl2⁺
• Genetic Background: involves: 129 * CD-1

mortality/aging

postnatal lethality, complete penetrance ( J:23260 )

• maternal inheritance of the mutant allele leads to embryonic death due to placental failure

• mice whom paternally inherit the mutant allele are viable

embryo

abnormal chorion morphology ( J:23260 )

• chorion membrane is underdeveloped in embryos whom maternally inherit the mutant allele

abnormal spongiotrophoblast layer morphology ( J:23260 )

• spongiotrophoblast fails to develop in embryos whom maternally inherit the mutant allele

cellular

paternal imprinting ( J:23260 )

• the paternal allele is functionally inactivated

• mice whom maternally inherit the mutant allele are functionally null homozygotes and die during embryogenesis

• mice whom paternally inherit the mutant allele are viable

Genotype
MGI:3772941

cx4

• Allelic Composition: Ascl2^tm1Alj/Ascl2⁺; Kcnq1ot1^tm1.1Mjh/Kcnq1ot1⁺
• Genetic Background: involves: 129 * C57BL/6 * ICR

embryo

embryo phenotype ( J:130399 )

N • no embryonic lethality is observed in mice maternally inheriting the Ascl2^tm1Alj allele

cellular

abnormal imprinting ( J:130399 )

• embryonic lethality associated with maternal transmission of Ascl2^tm1Alj allele is prevented by the addition of the Kcnq1^tm1.1Mjh allele due to a lack of paternal imprinting of genes in the distal portion of chromosome 7