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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rr27tm1Tilg
targeted mutation 1, Shirley M Tilghman
MGI:1930789
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Rr27tm1Tilg/Rr27+ involves: 129S1/Sv * C57BL/6J MGI:3845821
cx2
Rr27tm1Tilg/Rr27+
Igf2tm1Rob/Igf2+
involves: 129S/SvEv * 129S1/Sv * C57BL/6J MGI:3845905
cx3
Rr27tm1Tilg/Rr27+
Igf2tm1Rob/Igf2+
Igf2rtm1Stw/Igf2r+
involves: 129S/SvEv * 129S1/Sv * C57BL/6J MGI:3845907
cx4
Rr27tm1Tilg/Rr27+
Tg(CRP-TAg)60-3Urt/0
involves: 129S1/Sv * C57BL/6 * SJL MGI:3845889


Genotype
MGI:3845821
ht1
Allelic
Composition
Rr27tm1Tilg/Rr27+
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rr27tm1Tilg mutation (0 available); any Rr27 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• when the allele is inherited paternally, mice weigh between 70% and 73% of wild-type at birth (J:28716)
• when the allele is inherited paternally, mice weigh between 70% and 73% of wild-type at birth (J:28716)
• when the allele is inherited paternally, mice weigh 80% of wild-type at 3 weeks of age (J:28716)
• however, maternal inheritance of the allele does not alter body weight (J:28716)
• when the allele is inherited paternally, mice weigh 80% of wild-type at 3 weeks of age (J:28716)
• however, maternal inheritance of the allele does not alter body weight (J:28716)




Genotype
MGI:3845905
cx2
Allelic
Composition
Rr27tm1Tilg/Rr27+
Igf2tm1Rob/Igf2+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igf2tm1Rob mutation (0 available); any Igf2 mutation (7 available)
Rr27tm1Tilg mutation (0 available); any Rr27 mutation (2 available)
phenotype observed in females
phenotype observed in males
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 (J:77413)
• when each allele is inherited maternally, mice begin to die at E14.5 and are all dead by E18.5 (J:77413)

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 (J:77413)
• 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 (J:77413)
• when each allele is inherited maternally, sinusoids are observed in the septa unlike in wild-type mice (J:77413)
• when each allele is inherited maternally, sinusoids are observed in the septa unlike in wild-type mice (J:77413)
• when each allele is inherited maternally (J:77413)
• when each allele is inherited maternally (J:77413)
• when each allele is inherited maternally, the number of sinusoids in the ventricles is increased compared to in wild-type mice (J:77413)
• when each allele is inherited maternally, the number of sinusoids in the ventricles is increased compared to in wild-type mice (J:77413)
• when each allele is inherited maternally, the aortic valve is large and thickened compared to in wild-type mice (J:77413)
• when each allele is inherited maternally, the aortic valve is large and thickened compared to in wild-type mice (J:77413)
• when each allele is inherited maternally, the pulmonary valve is large and thickened compared to in wild-type mice (J:77413)
• when each allele is inherited maternally, the pulmonary valve is large and thickened compared to in wild-type mice (J:77413)
• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice (J:77413)
• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice (J:77413)
• 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 (J:77413)
• 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 (J:77413)

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 (J:77413)
• when each allele is inherited maternally, severely affected mice exhibit abnormal suturing patterns (J:77413)
• 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 (J:77413)
• when each allele is inherited maternally, severely affected mice exhibit abnormal suturing patterns (J:77413)
• poorly organized when each allele is inherited maternally (J:77413)
• poorly organized when each allele is inherited maternally (J:77413)
• when each allele is inherited maternally, 12 of 13 mice have open eyelids at E16.5 and E17.5 (J:77413)
• when each allele is inherited maternally, 12 of 13 mice have open eyelids at E16.5 and E17.5 (J:77413)

liver/biliary system
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally (J:77413)
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally (J:77413)
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally (J:77413)
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally (J:77413)

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 (J:77413)
• 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 (J:77413)
• 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 (J:77413)
• 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 (J:77413)
• 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 (J:77413)
• 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 (J:77413)

embryogenesis
• when each allele is inherited maternally, placenta weight is increased compared to in wild-type mice starting at E14.5 (J:77413)
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, placenta weight is 140% of wild-type mice at E15.5 (J:77413)
• when each allele is inherited maternally, placenta weight is 230% of wild-type at E16.5 (J:77413)
• when each allele is inherited maternally, placenta weight is increased compared to in wild-type mice starting at E14.5 (J:77413)
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, placenta weight is 140% of wild-type mice at E15.5 (J:77413)
• when each allele is inherited maternally, placenta weight is 230% of wild-type at E16.5 (J:77413)

craniofacial
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate (J:77413)
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate (J:77413)

endocrine/exocrine glands
• when each allele is inherited maternally, 3 of 4 mice develop adrenal gland cysts and both medullar and cortical cystic abnormalities (J:77413)
• when each allele is inherited maternally, 3 of 4 mice develop adrenal gland cysts and both medullar and cortical cystic abnormalities (J:77413)

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 (J:77413)
• 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 (J:77413)
• when each allele is inherited maternally, mice exhibit an edematous external appearance (J:77413)
• when each allele is inherited maternally, mice exhibit an edematous external appearance (J:77413)
• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice (J:77413)
• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice (J:77413)

growth/size/body
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate (J:77413)
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate (J:77413)
• 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 (J:77413)
• 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 (J:77413)
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, mice weight 130% of normal at E18.5 (J:77413)
• when each allele is inherited maternally, mice weigh 200% of normal at E16.5 and E17.5 (J:77413)
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, mice weight 130% of normal at E18.5 (J:77413)
• when each allele is inherited maternally, mice weigh 200% of normal at E16.5 and E17.5 (J:77413)

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 (J:77413)
• 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 (J:77413)

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 (J:77413)
• 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 (J:77413)
• 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 (J:77413)
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, the twin ossification centers in L3 are fused at E16.5 (J:77413)
• 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 (J:77413)
• when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally, the twin ossification centers in L3 are fused at E16.5 (J:77413)

digestive/alimentary system
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate (J:77413)
• when each allele is inherited maternally, 5 of 10 mice exhibit a cleft palate (J:77413)

renal/urinary system
• when each allele is inherited maternally (J:77413)
• when each allele is inherited maternally (J:77413)

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 (J:77413)
• 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 (J:77413)
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally (J:77413)
• when each allele is inherited maternally or when H19tm2Tilg is inherited maternally and Igf2tm1Rob is inherited paternally (J:77413)




Genotype
MGI:3845907
cx3
Allelic
Composition
Rr27tm1Tilg/Rr27+
Igf2tm1Rob/Igf2+
Igf2rtm1Stw/Igf2r+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igf2rtm1Stw mutation (0 available); any Igf2r mutation (4 available)
Igf2tm1Rob mutation (0 available); any Igf2 mutation (7 available)
Rr27tm1Tilg mutation (0 available); any Rr27 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• when Igf2rtm1Stw and H19tm2Tilg are inherited maternally and Igf2tm1Rob is inherited paternally, mice die immediately after birth (J:77413)
• when Igf2rtm1Stw and H19tm2Tilg are inherited maternally and Igf2tm1Rob is inherited paternally, mice die immediately after birth (J:77413)

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 (J:77413)
• when Igf2r and H19 are inherited maternally and Igf2 is inherited paternally, mice exhibit postaxial polydactyly that is confined to a single forelimb (J:77413)

growth/size/body
• when Igf2r and H19 are inherited maternally and Igf2 is inherited paternally, mice weigh 135% of wild-type (J:77413)
• when Igf2r and H19 are inherited maternally and Igf2 is inherited paternally, mice weigh 135% of wild-type (J:77413)




Genotype
MGI:3845889
cx4
Allelic
Composition
Rr27tm1Tilg/Rr27+
Tg(CRP-TAg)60-3Urt/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rr27tm1Tilg mutation (0 available); any Rr27 mutation (2 available)
Tg(CRP-TAg)60-3Urt mutation (0 available)
phenotype observed in females
phenotype observed in males
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 (J:138826)
• 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 (J:138826)
• 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 (J:138826)
• 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 (J:138826)





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