Phenotypes associated with this allele

• Allele Symbol: Kcnq1ot1^tm1Tilg
• Allele Name: targeted mutation 1, Shirley M Tilghman
• Allele ID: MGI:3773017
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Kcnq1ot1^tm1Tilg/Kcnq1ot1^+	involves: 129S1/Sv * C57BL/6 * M. spretus	MGI:3773041
cx2	Cdkn1c^tm1Sje/Cdkn1c^+ Kcnq1ot1^tm1Tilg/Kcnq1ot1^+	involves: 129 * C57BL/6	MGI:3773051

Genotype
MGI:3773041

ht1

• Allelic Composition: Kcnq1ot1^tm1Tilg/Kcnq1ot1⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * M. spretus

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

growth/size/body

weight loss ( J:108700 )

• mice whom paternally inherit the knockout allele display 10-20% decline in weight as they age

cellular

abnormal imprinting ( J:108700 )

• paternal transmission of the deletion leads to the biallelic expression of several genes that are normally only expressed on the maternal allele

• the genes examined that lose imprinting are Axcl2, Kcnq1, Cdkn1c, Slc22a18, Phlda2, Osbpl5

Genotype
MGI:3773051

cx2

• Allelic Composition: Cdkn1c^tm1Sje/Cdkn1c⁺; Kcnq1ot1^tm1Tilg/Kcnq1ot1⁺
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

mortality/aging ( J:108700 )

N • mice that maternally inherit the mutant Cdkn1c allele do survive to adulthood

cellular

abnormal imprinting ( J:108700 )

• paternal transmission of the deletion mutation leads to the paternal allelic expression of the Cdkn1c gene and prevents the postnatal lethality phenotype associated with Cdkn1c heterozygotes that paternally inherit the wild-type allele