All Phenotypes H19<tm1Tilg> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

H19^tm1Tilg
targeted mutation 1, Shirley M Tilghman
MGI:1930620

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	H19^tm1Tilg/H19⁺	involves: 129S/SvEv	MGI:2664809
ht2	H19^tm1.1Sriv/H19^tm1Tilg	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3722123
cx3	H19^tm1Tilg/H19⁺ Sdhd^tm1Jpb/Sdhd⁺	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6	MGI:4418216
cx4	H19^tm1Tilg/H19⁺ Igf2^tm1Rob/Igf2⁺	involves: 129S/SvEv	MGI:3639341
cx5	Gpc3^tm1Arge/Gpc3^tm1Arge H19^tm1Tilg/H19⁺	involves: 129S/SvEv * 129S1/Sv	MGI:3629878
cx6	Gpc3^tm1Arge/Y H19^tm1Tilg/H19⁺	involves: 129S/SvEv * 129S1/Sv	MGI:3629875
cx7	Dnmt1^tm1Enl/Dnmt1^tm1Enl H19^tm1Tilg/H19⁺	involves: 129S/SvEv * 129S4/SvJae	MGI:3712940
cx8	H19^tm1Tilg/H19⁺ Tg(CRP-TAg)60-3Urt/0	involves: 129S/SvEv * BALB/c * C57BL/6 * SJL	MGI:3845888

Allelic Composition	H19^tm1Tilg/H19⁺
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19^tm1Tilg mutation (1 available); any H19 mutation (12 available)

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

embryo

increased placenta weight ( J:75054 )

• placentas are 54% heavier at E18.5 than in wild-type when the mutated allele is inherited maternally

growth/size/body

increased body weight ( J:25091 , J:75054 )

• 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

paternal imprinting ( J:25091 , J:75054 )

• 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)

Allelic Composition	H19^tm1.1Sriv/H19^tm1Tilg
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19^tm1.1Sriv mutation (0 available); any H19 mutation (12 available)
H19^tm1Tilg mutation (1 available); any H19 mutation (12 available)

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

cellular

abnormal DNA methylation ( J:82595 )

• methylation is altered such that maternal Igf2 is aberrantly expressed

Allelic Composition	H19^tm1Tilg/H19⁺ Sdhd^tm1Jpb/Sdhd⁺
Genetic Background	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19^tm1Tilg mutation (1 available); any H19 mutation (12 available)
Sdhd^tm1Jpb mutation (0 available); any Sdhd mutation (16 available)

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

neoplasm

neoplasm ( J:155380 )

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

nervous system phenotype ( J:155380 )

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

Allelic Composition	H19^tm1Tilg/H19⁺ Igf2^tm1Rob/Igf2⁺
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H19^tm1Tilg mutation (1 available); any H19 mutation (12 available)
Igf2^tm1Rob mutation (1 available); any Igf2 mutation (28 available)

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

growth/size/body

growth/size/body region phenotype ( J:25091 )

N	• indistinguishable in size from wild-type in birth weights and postnatal growth rates

Allelic Composition	Gpc3^tm1Arge/Gpc3^tm1Arge H19^tm1Tilg/H19⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpc3^tm1Arge mutation (0 available); any Gpc3 mutation (18 available)
H19^tm1Tilg mutation (1 available); any H19 mutation (12 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:75054 )

• about 70% of double mutants that inherit the H19 allele maternally are stillborn

postnatal lethality, incomplete penetrance ( J:75054 )

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

cellular

paternal imprinting ( J:75054 )

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

Allelic Composition	Gpc3^tm1Arge/Y H19^tm1Tilg/H19⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv

Find Mice

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:75054 )

• about 70% of double mutant males that inherit the H19 allele maternally are stillborn

postnatal lethality, incomplete penetrance ( J:75054 )

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

embryo

increased placenta weight ( J:75054 )

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

growth/size/body

increased body weight ( 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

omphalocele ( J:75054 )

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

skeleton

asymmetric sternocostal joints ( J:75054 )

• 3 of 6 double mutants that inherit the H19 allele maternally exhibit asymmetrical and staggered attachment of the ribs to the sternum

split xiphoid process ( J:75054 )

• in 3 of 6 mutants double mutants that inherit the H19 allele maternally, the cartilage of the xiphisternum is bifurcated

increased rib number ( 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

rib fusion ( J:75054 )

• one severely affected double mutant shows unilateral fusion of the first two ribs in the middle portion

abnormal sternum ossification ( J:75054 )

• ossification of the sternum throughout its length

cellular

paternal imprinting ( J:75054 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Simpson-Golabi-Behmel syndrome type 1		DOID:0060248	OMIM:312870	J:75054

Allelic Composition	Dnmt1^tm1Enl/Dnmt1^tm1Enl H19^tm1Tilg/H19⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt1^tm1Enl mutation (0 available); any Dnmt1 mutation (112 available)
H19^tm1Tilg mutation (1 available); any H19 mutation (12 available)

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

cellular

genetic imprinting ( J:110857 )

• Ifg2 expression is normal indicating that imprinting is normal at this locus

Allelic Composition	H19^tm1Tilg/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:
H19^tm1Tilg mutation (1 available); any H19 mutation (12 available)
Tg(CRP-TAg)60-3Urt mutation (0 available)

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

liver/biliary system

increased liver tumor incidence ( J:90036 )

• by 6 months mice with paternal inheritance of H19^tm1Lda develop liver tumors unlike in wild-type mice

mortality/aging

mortality/aging ( J:90036 )

N	• mice with paternal inheritance of H19^tm1Lda live longer than those expressing only Tg(CRP-TAg)60-3Urt

neoplasm

increased liver tumor incidence ( J:90036 )

• by 6 months mice with paternal inheritance of H19^tm1Lda develop liver tumors unlike in wild-type mice

decreased tumor incidence ( J:90036 )

• when H19^tm1Lda 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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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