Mouse Genome Informatics
ht1
    H19tm1Tilg/H19+
involves: 129S/SvEv
Key:
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)


Mouse Genome Informatics
ht2
    H19tm1.1Sriv/H19tm1Tilg
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• methylation is altered such that maternal Igf2 is aberrantly expressed


Mouse Genome Informatics
cx3
    H19tm1Tilg/H19+
Sdhdtm1Jpb/Sdhd+

involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6
Key:
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


Mouse Genome Informatics
cx4
    H19tm1Tilg/H19+
Igf2tm1Rob/Igf2+

involves: 129S/SvEv
Key:
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


Mouse Genome Informatics
cx5
    Gpc3tm1Arge/Y
H19tm1Tilg/H19+

involves: 129S/SvEv * 129S1/Sv
Key:
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 IDRef(s)
Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1 312870 J:75054


Mouse Genome Informatics
cx6
    Gpc3tm1Arge/Gpc3tm1Arge
H19tm1Tilg/H19+

involves: 129S/SvEv * 129S1/Sv
Key:
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


Mouse Genome Informatics
cx7
    Dnmt1tm1Enl/Dnmt1tm1Enl
H19tm1Tilg/H19+

involves: 129S/SvEv * 129S4/SvJae
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• Ifg2 expression is normal indicating that imprinting is normal at this locus


Mouse Genome Informatics
cx8
    H19tm1Tilg/H19+
Tg(CRP-TAg)60-3Urt/0

involves: 129S/SvEv * BALB/c * C57BL/6 * SJL
Key:
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

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