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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kcnq1ot1+
wild type
MGI:2439650
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Kcnq1ot1tm1.1Ckan/Kcnq1ot1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * M. spretus MGI:4830275
ht2
Kcnq1ot1tm1Tilg/Kcnq1ot1+ involves: 129S1/Sv * C57BL/6 * M. spretus MGI:3773041
ht3
Kcnq1ot1tm2Tilg/Kcnq1ot1+ involves: 129S1/Sv * C57BL/6 * M. spretus MGI:3773042
ht4
Kcnq1ot1tm3Tilg/Kcnq1ot1+ involves: 129S1/Sv * C57BL/6 * M. spretus MGI:3773043
ht5
Kcnq1ot1tm4Tilg/Kcnq1ot1+ involves: 129S1/Sv * C57BL/6 * M. spretus MGI:3773044
ht6
Kcnq1ot1tm2Tilg/Kcnq1ot1+ involves: 129S1/Sv * M. spretus MGI:4830276
ht7
Kcnq1ot1tm2Mjh/Kcnq1ot1+ involves: 129S4/SvJae * C57BL/6 * FVB/N MGI:3772669
ht8
Kcnq1ot1tm3Mjh/Kcnq1ot1+ involves: 129S4/SvJae * C57BL/6 * FVB/N MGI:3772670
ht9
Kcnq1ot1tm1.1Mjh/Kcnq1ot1+ involves: 129S4/SvJae * C57BL/6J * FVB/N MGI:2451332
cn10
Kcnq1ot1tm2.1Ckan/Kcnq1ot1+
Meox2tm1(cre)Sor/Meox2+
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SD7 MGI:5431828
cn11
Kcnq1ot1tm2.1Ckan/Kcnq1ot1+
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SD7 MGI:5431829
cx12
Cdkn1ctm1Sje/Cdkn1c+
Kcnq1ot1tm1Tilg/Kcnq1ot1+
involves: 129 * C57BL/6 MGI:3773051
cx13
Kcnq1ot1tm1.1Mjh/Del(7Ins2-Tel)1Lef involves: 129 * C57BL/6 * ICR MGI:3772940
cx14
Ascl2tm1Alj/Ascl2+
Kcnq1ot1tm1.1Mjh/Kcnq1ot1+
involves: 129 * C57BL/6 * ICR MGI:3772941


Genotype
MGI:4830275
ht1
Allelic
Composition
Kcnq1ot1tm1.1Ckan/Kcnq1ot1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * M. spretus
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• when this allele is inherited paternally, mice exhibit altered DNA methylation at somatically acquired differentially methylated regions compared with wild-type mice
• however, histone modifications to ubiquitously imprinted genes is normal
• when this allele is inherited paternally, mice exhibit lineage-specific relaxes imprinting of ubiquitously imprinted genes compared with wild-type mice
• however, genes imprinted only in the placenta are normal




Genotype
MGI:3773041
ht2
Allelic
Composition
Kcnq1ot1tm1Tilg/Kcnq1ot1+
Genetic
Background
involves: 129S1/Sv * C57BL/6 * M. spretus
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice whom paternally inherit the knockout allele display 10-20% decline in weight as they age

cellular
• 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:3773042
ht3
Allelic
Composition
Kcnq1ot1tm2Tilg/Kcnq1ot1+
Genetic
Background
involves: 129S1/Sv * C57BL/6 * M. spretus
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• paternal transmission of the deletion leads to the biallelic expression of several genes that are normally only expressed on the maternal allele




Genotype
MGI:3773043
ht4
Allelic
Composition
Kcnq1ot1tm3Tilg/Kcnq1ot1+
Genetic
Background
involves: 129S1/Sv * C57BL/6 * M. spretus
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• paternal transmission of the deletion leads to the biallelic expression of several genes that are normally only expressed on the maternal allele




Genotype
MGI:3773044
ht5
Allelic
Composition
Kcnq1ot1tm4Tilg/Kcnq1ot1+
Genetic
Background
involves: 129S1/Sv * C57BL/6 * M. spretus
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• paternal transmission of the deletion leads to the biallelic expression of several genes that are normally only expressed on the maternal allele




Genotype
MGI:4830276
ht6
Allelic
Composition
Kcnq1ot1tm2Tilg/Kcnq1ot1+
Genetic
Background
involves: 129S1/Sv * M. spretus
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• when this allele is inherited paternally, mice exhibit disruption in both ubiquitously and placental-specific imprinting compared with wild-type mice




Genotype
MGI:3772669
ht7
Allelic
Composition
Kcnq1ot1tm2Mjh/Kcnq1ot1+
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• at E15.5, mice that inherit the paternal allele are 11% smaller than wild-type mice
• at E15.5, mice that inherit the paternal allele exhibit a 14% reduction in placenta compared to wild-type

growth/size/body
• at E15.5, mice that inherit the paternal allele are 11% smaller than wild-type mice
• at E15.5, mice that inherit the paternal allele are 7% smaller than wild-type mice

cellular
• expression of several maternally imprinted genes under the control of the Kcnq imprinting control region is disrupted




Genotype
MGI:3772670
ht8
Allelic
Composition
Kcnq1ot1tm3Mjh/Kcnq1ot1+
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• expression of imprinted genes is normal




Genotype
MGI:2451332
ht9
Allelic
Composition
Kcnq1ot1tm1.1Mjh/Kcnq1ot1+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• beginning at E14.5, mice carrying a paternally-inherited allele are smaller than wild-type mice
• mice carrying a paternally-inherited allele weigh 20%-25% less than wild-type littermates up to 6 weeks of age
• weight so internal organs (kidney, liver and lung) are decreased proportional to weight reduction

embryo
• beginning at E14.5, mice carrying a paternally-inherited allele are smaller than wild-type mice

liver/biliary system
• in mice carrying a paternally-inherited allele

renal/urinary system
• in mice carrying a paternally-inherited allele

respiratory system
• in mice carrying a paternally-inherited allele

cellular
• mice do not exhibit defects when the allele is inherited maternally




Genotype
MGI:5431828
cn10
Allelic
Composition
Kcnq1ot1tm2.1Ckan/Kcnq1ot1+
Meox2tm1(cre)Sor/Meox2+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SD7
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq1ot1tm2.1Ckan mutation (0 available); any Kcnq1ot1 mutation (0 available)
Meox2tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• loss of imprinting of ubiquitously imprinted genes when the Kcnq1ot1 allele is inherited paternally
• no alteration of imprinting status when the Kcnq1ot1 allele is inherited maternally

growth/size/body
• at 4 weeks of age when the Kcnq1ot1 allele is inherited maternally




Genotype
MGI:5431829
cn11
Allelic
Composition
Kcnq1ot1tm2.1Ckan/Kcnq1ot1+
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SD7
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq1ot1tm2.1Ckan mutation (0 available); any Kcnq1ot1 mutation (0 available)
Tg(CAG-cre/Esr1*)5Amc mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• loss of methylation in the somatic differentially methylated regions following tamoxifen treatment at E8.5 when the Kcnq1ot1 allele is inherited paternally
• 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




Genotype
MGI:3773051
cx12
Allelic
Composition
Cdkn1ctm1Sje/Cdkn1c+
Kcnq1ot1tm1Tilg/Kcnq1ot1+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Sje mutation (1 available); any Cdkn1c mutation (19 available)
Kcnq1ot1tm1Tilg mutation (0 available); any Kcnq1ot1 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice that maternally inherit the mutant Cdkn1c allele do survive to adulthood

cellular
• 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




Genotype
MGI:3772940
cx13
Allelic
Composition
Kcnq1ot1tm1.1Mjh/Del(7Ins2-Tel)1Lef
Genetic
Background
involves: 129 * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
N
• no embryonic lethality is observed in mice maternally inheriting the chromosome deletion

cellular
• 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




Genotype
MGI:3772941
cx14
Allelic
Composition
Ascl2tm1Alj/Ascl2+
Kcnq1ot1tm1.1Mjh/Kcnq1ot1+
Genetic
Background
involves: 129 * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ascl2tm1Alj mutation (0 available); any Ascl2 mutation (13 available)
Kcnq1ot1tm1.1Mjh mutation (0 available); any Kcnq1ot1 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
N
• no embryonic lethality is observed in mice maternally inheriting the Ascl2tm1Alj allele

cellular
• embryonic lethality associated with maternal transmission of Ascl2tm1Alj allele is prevented by the addition of the Kcnq1tm1.1Mjh allele due to a lack of paternal imprinting of genes in the distal portion of chromosome 7





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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory