Phenotypes Associated with This Genotype

Genotype
MGI:5431829

• Allelic Composition: Kcnq1ot1^tm2.1Ckan/Kcnq1ot1⁺; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SD7

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

cellular

abnormal DNA methylation ( J:185569 )

• loss of methylation in the somatic differentially methylated regions following tamoxifen treatment at E8.5 when the Kcnq1ot1 allele is inherited paternally

abnormal imprinting ( J:185569 )

• loss of imprinting of ubiquitously imprinted genes following tamoxifen treatment at E8.5 when the Kcnq1ot1 allele is inherited paternally

• however, silencing of placental-specific imprinted genes is variably maintained

• no alteration of imprinting status when the Kcnq1ot1 allele is inherited maternally