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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
H19tm1Tilg
targeted mutation 1, Shirley M Tilghman
MGI:1930620
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
H19tm1Tilg/H19+ involves: 129S/SvEv MGI:2664809
ht2
H19tm1.1Sriv/H19tm1Tilg involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * FVB/N MGI:3722123
cx3
H19tm1Tilg/H19+
Sdhdtm1Jpb/Sdhd+
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 MGI:4418216
cx4
H19tm1Tilg/H19+
Igf2tm1Rob/Igf2+
involves: 129S/SvEv MGI:3639341
cx5
Gpc3tm1Arge/Y
H19tm1Tilg/H19+
involves: 129S/SvEv * 129S1/Sv MGI:3629875
cx6
Gpc3tm1Arge/Gpc3tm1Arge
H19tm1Tilg/H19+
involves: 129S/SvEv * 129S1/Sv MGI:3629878
cx7
Dnmt1tm1Enl/Dnmt1tm1Enl
H19tm1Tilg/H19+
involves: 129S/SvEv * 129S4/SvJae MGI:3712940
cx8
H19tm1Tilg/H19+
Tg(CRP-TAg)60-3Urt/0
involves: 129S/SvEv * BALB/c * C57BL/6 * SJL MGI:3845888


Genotype
MGI:2664809
ht1
Allelic
Composition
H19tm1Tilg/H19+
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• placentas are 54% heavier at E18.5 than in wild-type when the mutated allele is inherited maternally (J:75054)
• placentas are 54% heavier at E18.5 than in wild-type when the mutated allele is inherited maternally (J:75054)

growth/size/body
• heterozygotes inheriting the mutant allele from the mother exhibit an increase in body mass (28% difference from wild-type) (J:25091)
• heterozygotes inheriting the mutant allele from the mother exhibit an increase in body mass (28% difference from wild-type) (J:25091)
• heavier than controls at E18.5 when the mutated allele is inherited maternally (J:75054)
• heavier than controls at E18.5 when the mutated allele is inherited maternally (J:75054)

cellular
• defects are seen in heterozygotes that receive the mutant allele from the mother while those that receive the mutant allele from the father are normal (J:25091)
• when maternally inherited, the maternal H19 gene is repressed and the normally imprinted Igf2 and Ins-2 genes are expressed (J:25091)
• defects are seen in heterozygotes that receive the mutant allele from the mother while those that receive the mutant allele from the father are normal (J:25091)
• when maternally inherited, the maternal H19 gene is repressed and the normally imprinted Igf2 and Ins-2 genes are expressed (J:25091)




Genotype
MGI:3722123
ht2
Allelic
Composition
H19tm1.1Sriv/H19tm1Tilg
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19tm1.1Sriv mutation (0 available); any H19 mutation (4 available)
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• methylation is altered such that maternal Igf2 is aberrantly expressed (J:82595)
• methylation is altered such that maternal Igf2 is aberrantly expressed (J:82595)




Genotype
MGI:4418216
cx3
Allelic
Composition
H19tm1Tilg/H19+
Sdhdtm1Jpb/Sdhd+
Genetic
Background
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
Sdhdtm1Jpb mutation (0 available); any Sdhd mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
tumorigenesis
N
• no paragangliomas nor pheochromocytomas are detected in mice at up to 29 months of age in contrast to expectations from human disease data (J:155380)
• no paragangliomas nor pheochromocytomas are detected in mice at up to 29 months of age in contrast to expectations from human disease data (J:155380)

nervous system
N
• no significant changes in carotid body or the adrenal medulla are seen (J:155380)
• no significant changes in carotid body or the adrenal medulla are seen (J:155380)




Genotype
MGI:3639341
cx4
Allelic
Composition
H19tm1Tilg/H19+
Igf2tm1Rob/Igf2+
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
Igf2tm1Rob mutation (0 available); any Igf2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• indistinguishable in size from wild-type in birth weights and postnatal growth rates (J:25091)
• indistinguishable in size from wild-type in birth weights and postnatal growth rates (J:25091)




Genotype
MGI:3629875
cx5
Allelic
Composition
Gpc3tm1Arge/Y
H19tm1Tilg/H19+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3tm1Arge mutation (0 available); any Gpc3 mutation (16 available)
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 70% of double mutant males that inherit the H19 allele maternally are stillborn (J:75054)
• about 70% of double mutant males that inherit the H19 allele maternally are stillborn (J:75054)
• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning (J:75054)
• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning (J:75054)

embryogenesis
• placentas are 94% heavier at E18.5 than in wild-type in double mutants that inherit the H19 allele maternally (J:75054)
• placentas are 94% heavier at E18.5 than in wild-type in double mutants that inherit the H19 allele maternally (J:75054)

growth/size/body
• double mutants that inherit the H19 allele maternally are heavier than wildtype at E18.5, but similar in weight as either single mutant (J:75054)
• double mutants that inherit the H19 allele maternally are heavier than wildtype at E18.5, but similar in weight as either single mutant (J:75054)
• seen in 13 of 16 double mutants that inherit the H19 allele maternally (J:75054)
• seen in 13 of 16 double mutants that inherit the H19 allele maternally (J:75054)

skeleton
• 3 of 6 double mutants that inherit the H19 allele maternally exhibit asymmetrical and staggered attachment of the ribs to the sternum (J:75054)
• 3 of 6 double mutants that inherit the H19 allele maternally exhibit asymmetrical and staggered attachment of the ribs to the sternum (J:75054)
• ossification of the sternum throughout its length (J:75054)
• ossification of the sternum throughout its length (J:75054)
• in 3 of 6 mutants double mutants that inherit the H19 allele maternally, the cartilage of the xiphisternum is bifurcated (J:75054)
• in 3 of 6 mutants double mutants that inherit the H19 allele maternally, the cartilage of the xiphisternum is bifurcated (J:75054)
• one severely affected double mutant with the fusion of the first two ribs also has an extra (14th) pair of rudimentary ribs associated with the first pair of lumbar vertebrae (J:75054)
• one severely affected double mutant with the fusion of the first two ribs also has an extra (14th) pair of rudimentary ribs associated with the first pair of lumbar vertebrae (J:75054)
• one severely affected double mutant shows unilateral fusion of the first two ribs in the middle portion (J:75054)
• one severely affected double mutant shows unilateral fusion of the first two ribs in the middle portion (J:75054)

cellular
• defects are seen in double mutants that receive the H19 mutant allele from the mother (J:75054)
• defects are seen in double mutants that receive the H19 mutant allele from the mother (J:75054)

Mouse Models of Human Disease
OMIM ID Ref(s)
Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1 312870 J:75054




Genotype
MGI:3629878
cx6
Allelic
Composition
Gpc3tm1Arge/Gpc3tm1Arge
H19tm1Tilg/H19+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3tm1Arge mutation (0 available); any Gpc3 mutation (16 available)
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 70% of double mutants that inherit the H19 allele maternally are stillborn (J:75054)
• about 70% of double mutants that inherit the H19 allele maternally are stillborn (J:75054)
• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning (J:75054)
• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning (J:75054)

cellular
• defects are seen in double mutants that receive the H19 mutant allele from the mother (J:75054)
• defects are seen in double mutants that receive the H19 mutant allele from the mother (J:75054)




Genotype
MGI:3712940
cx7
Allelic
Composition
Dnmt1tm1Enl/Dnmt1tm1Enl
H19tm1Tilg/H19+
Genetic
Background
involves: 129S/SvEv * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt1tm1Enl mutation (0 available); any Dnmt1 mutation (44 available)
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• Ifg2 expression is normal indicating that imprinting is normal at this locus (J:110857)
• Ifg2 expression is normal indicating that imprinting is normal at this locus (J:110857)




Genotype
MGI:3845888
cx8
Allelic
Composition
H19tm1Tilg/H19+
Tg(CRP-TAg)60-3Urt/0
Genetic
Background
involves: 129S/SvEv * BALB/c * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19tm1Tilg mutation (0 available); any H19 mutation (4 available)
Tg(CRP-TAg)60-3Urt mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice with paternal inheritance of H19tm1Lda live longer than those expressing only Tg(CRP-TAg)60-3Urt (J:90036)
• mice with paternal inheritance of H19tm1Lda live longer than those expressing only Tg(CRP-TAg)60-3Urt (J:90036)

tumorigenesis
• by 6 months mice with paternal inheritance of H19tm1Lda develop liver tumors unlike in wild-type mice (J:90036)
• by 6 months mice with paternal inheritance of H19tm1Lda develop liver tumors unlike in wild-type mice (J:90036)
• when H19tm1Lda is inherited paternally, mice display a more than 3 week delay in spontaneous tumorigenesis and subsequent mortality associated with Tg(CRP-TAg)60-3Urt expression (J:90036)
• when H19tm1Lda is inherited paternally, mice display a more than 3 week delay in spontaneous tumorigenesis and subsequent mortality associated with Tg(CRP-TAg)60-3Urt expression (J:90036)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory