Mouse Genome Informatics
ht1
    Rr27tm1Tilg/H19+
involves: 129S1/Sv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• when the allele is inherited paternally, mice weigh between 70% and 73% of wild-type at birth
• when the allele is inherited paternally, mice weigh 80% of wild-type at 3 weeks of age
• however, maternal inheritance of the allele does not alter body weight


Mouse Genome Informatics
cx2
    Rr27tm1Tilg/H19+
Igf2tm1Rob/Igf2+

involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• when each allele is inherited maternally, mice begin to die at E14.5 and are all dead by E18.5

cardiovascular system
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, the muscular wall of the heart is hyperplastic and hyperplastic endothelial cells accumulate in the intertrabecular spaces of the ventricles and atria unlike in wild-type mice
• when each allele is inherited maternally, sinusoids are observed in the septa unlike in wild-type mice
• when each allele is inherited maternally
• when each allele is inherited maternally, the number of sinusoids in the ventricles is increased compared to in wild-type mice
• when each allele is inherited maternally, the aortic valve is large and thickened compared to in wild-type mice
• when each allele is inherited maternally, the pulmonary valve is large and thickened compared to in wild-type mice
• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, heart cell proliferation at E13.5 is increased compared to in wild-type mice

vision/eye
• when each allele is inherited maternally, the anterior surface of the lens fiber cell fails to make contact with the interior surface of the lens epithelium at E13.5 to E17.5 leaving a position of the lumen unfilled unlike in wild-type mice
• when each allele is inherited maternally, severely affected mice exhibit abnormal suturing patterns
• poorly organized when each allele is inherited maternally
• when each allele is inherited maternally, 12 of 13 mice have open eyelids at E16.5 and E17.5

liver/biliary system
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally

limbs/digits/tail
• when each allele is inherited maternally, penetrance of type B-like postaxial polydactyly is complete with a small extra digit that contains a single phalangeal bone
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, penetrance of type A and B postaxial polydactyly is incomplete with either a small extra digit that contains a single phalangeal bone, an extra digits with two phalanges, or an extra digit with a third skeletal element
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, a minority of mice exhibit preaxial polydactyly with doubling or bifurcation of the distal phalanx of the pollex associated with postaxial polydactyly

embryogenesis
• when each allele is inherited maternally, placenta weight is increased compared to in wild-type mice starting at E14.5
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, placenta weight is 140% of wild-type mice at E15.5
• when each allele is inherited maternally, placenta weight is 230% of wild-type at E16.5

craniofacial
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate

endocrine/exocrine glands
• when each allele is inherited maternally, 3 of 4 mice develop adrenal gland cysts and both medullar and cortical cystic abnormalities

homeostasis/metabolism
• when each allele is inherited maternally, serum insulin-like growth factor II levels are increase more than 11-fold compared to in wild-type mice
• when each allele is inherited maternally, mice exhibit an edematous external appearance
• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice

growth/size
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate
• when each allele is inherited maternally, 20 of 22 mice exhibit large omphalocele consisting of a large portion of the liver present anteriorly and intestinal loops lying posteriorly
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, mice weight 130% of normal at E18.5
• when each allele is inherited maternally, mice weigh 200% of normal at E16.5 and E17.5

muscle
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, heart cell proliferation at E13.5 is increased compared to in wild-type mice

skeleton
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, the sternum is split along the entire midline and almost duplicated in total width at E16.5
• when each allele is inherited maternally, the twin centers in L2 are fused in the midline whereas the L3 and L4 centers remain separate at E16.5
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, the twin ossification centers in L3 are fused at E16.5

digestive/alimentary system
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate

renal/urinary system
• when each allele is inherited maternally

cellular
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, heart cell proliferation at E13.5 is increased compared to in wild-type mice
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally


Mouse Genome Informatics
cx3
    Rr27tm1Tilg/H19+
Igf2tm1Rob/Igf2+
Igf2rtm1Stw/Igf2r+

involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• when Igf2rtm1Stw and H19tm2Tilg are inherited maternally and Igf2tm1Rob is inherited paternally, mice die immediately after birth

limbs/digits/tail
• when Igf2r and H19 are inherited maternally and Igf2 is inherited paternally, mice exhibit postaxial polydactyly that is confined to a single forelimb

growth/size
• when Igf2r and H19 are inherited maternally and Igf2 is inherited paternally, mice weigh 135% of wild-type


Mouse Genome Informatics
cx4
    Rr27tm1Tilg/H19+
Tg(CRP-TAg)60-3Urt/0

involves: 129S1/Sv * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• 35% of male mice with the maternally inherited H19tm2Tilg allele develop liver tumors larger than 3 mm by 120 days compared to 20% of mice only expressing Tg(CRP-TAg)60-3Urt
• between 120 and 134 days, 48% of male mice with the maternally inherited H19tm2Tilg allele develop liver tumors compared to 30% of mice only expressing Tg(CRP-TAg)60-3Urt