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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

growth/size/body
• 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)

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)




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




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 (10 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

nervous system
N
• no significant changes in carotid body or the adrenal medulla are seen




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




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
• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning

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

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
• seen in 13 of 16 double mutants that inherit the H19 allele maternally

skeleton
• 3 of 6 double mutants that inherit the H19 allele maternally exhibit asymmetrical and staggered attachment of the ribs to the sternum
• ossification of the sternum throughout its length
• in 3 of 6 mutants double mutants that inherit the H19 allele maternally, the cartilage of the xiphisternum is bifurcated
• 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
• one severely affected double mutant shows unilateral fusion of the first two ribs in the middle portion

cellular
• defects are seen in double mutants that receive the H19 mutant allele from the mother

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
• some additional mutants (that inherit the H19 allele maternally) that survive the perinatal period die before weaning

cellular
• defects are seen in double mutants that receive the H19 mutant allele from the mother




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 (70 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




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
liver/biliary system
• by 6 months mice with paternal inheritance of H19tm1Lda develop liver tumors unlike in wild-type mice

mortality/aging
N
• mice with paternal inheritance of H19tm1Lda live longer than those expressing only Tg(CRP-TAg)60-3Urt

tumorigenesis
• by 6 months mice with paternal inheritance of H19tm1Lda develop liver tumors unlike in wild-type mice
• 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





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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory