All Phenotypes Del(7Ins2-Tel)1Lef MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(7Ins2-Tel)1Lef/+	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:3772934
cx2	Kcnq1ot1^tm1.1Mjh/Del(7Ins2-Tel)1Lef	involves: 129 * C57BL/6 * ICR	MGI:3772940

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:130399 )

• embryos inheriting the chromosome deletion from their mothers die around E10.5

• females inheriting the chromosome deletion paternally are viable and fertile

embryo

abnormal trophoblast layer morphology ( J:130399 )

• embryos whom maternally inherit the chromosome deletion have a thicker giant cell layer in their placenta

absent spongiotrophoblast ( J:130399 )

• embryos whom maternally inherit the chromosome deletion lack spongiotrophoblasts in their placenta

pale yolk sac ( J:130399 )

• there is an absence of blood in the yolk sacs of embryos whom maternally inherit the chromosome deletion

cardiovascular system

pericardial effusion ( J:130399 )

• is observed in E10.5 embryos whom maternally inherit the chromosome deletion

cellular

paternal imprinting ( J:130399 )

• the chromosome deletion contains paternally silenced genes so that no abnormal phenotype is observed when the deletion is inherited paternally and embryonic lethality is observed when the deletion is inherited maternally

homeostasis/metabolism

pericardial effusion ( J:130399 )

• is observed in E10.5 embryos whom maternally inherit the chromosome deletion

Allelic Composition	Kcnq1ot1^tm1.1Mjh/Del(7Ins2-Tel)1Lef
Genetic Background	involves: 129 * C57BL/6 * ICR

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

embryo

embryo phenotype ( J:130399 )

N	• no embryonic lethality is observed in mice maternally inheriting the chromosome deletion

cellular

abnormal imprinting ( J:130399 )

• embryonic lethality associated with maternal transmission of the chromosome deletion is prevented by the addition of the targeted mutation due to a lack of paternal imprinting of genes in the distal portion of chromosome 7

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