Phenotypes Associated with This Genotype

Genotype
MGI:3845905

• Allelic Composition: Rr28^tm1Tilg/Rr28⁺; Igf2^tm1Rob/Igf2⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:77413 )

• when each allele is inherited maternally, mice begin to die at E14.5 and are all dead by E18.5

cardiovascular system

abnormal myocardium layer morphology ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob 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

abnormal heart septum morphology ( J:77413 )

• when each allele is inherited maternally, sinusoids are observed in the septa unlike in wild-type mice

increased heart weight ( J:77413 )

• when each allele is inherited maternally

abnormal heart ventricle morphology ( J:77413 )

• when each allele is inherited maternally, the number of sinusoids in the ventricles is increased compared to in wild-type mice

enlarged aortic valve ( J:77413 )

• when each allele is inherited maternally, the aortic valve is large and thickened compared to in wild-type mice

thick aortic valve ( J:77413 )

enlarged pulmonary valve ( J:77413 )

• when each allele is inherited maternally, the pulmonary valve is large and thickened compared to in wild-type mice

thick pulmonary valve ( J:77413 )

pericardial edema ( J:77413 )

• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice

abnormal fetal cardiomyocyte proliferation ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally, heart cell proliferation at E13.5 is increased compared to in wild-type mice

vision/eye

abnormal lens development ( 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

• when each allele is inherited maternally, severely affected mice exhibit abnormal suturing patterns

abnormal lens epithelium morphology ( J:77413 )

• poorly organized when each allele is inherited maternally

delayed eyelid fusion ( J:77413 )

• when each allele is inherited maternally, 12 of 13 mice have open eyelids at E16.5 and E17.5

liver/biliary system

increased hepatocyte proliferation ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally

increased liver weight ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally

limbs/digits/tail

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

• when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob 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 H19^tm2Tilg is inherited maternally and Igf2^tm1Rob 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

embryo

increased placenta weight ( J:77413 )

• when each allele is inherited maternally, placenta weight is increased compared to in wild-type mice starting at E14.5

• when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob 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

cleft palate ( J:77413 )

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

endocrine/exocrine glands

adrenal gland cyst ( J:77413 )

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

homeostasis/metabolism

abnormal circulating hormone level ( 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

edema ( J:77413 )

• when each allele is inherited maternally, mice exhibit an edematous external appearance

pericardial edema ( J:77413 )

• when each allele is inherited maternally, 2 of 4 mice exhibit accumulation of pericardial fluid unlike in wild-type mice

growth/size/body

increased heart weight ( J:77413 )

• when each allele is inherited maternally

cleft palate ( J:77413 )

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

adrenal gland cyst ( J:77413 )

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

omphalocele ( 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

increased fetal weight ( J:77413 )

• when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob 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

increased liver weight ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally

muscle

abnormal myocardium layer morphology ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob 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

abnormal fetal cardiomyocyte proliferation ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally, heart cell proliferation at E13.5 is increased compared to in wild-type mice

skeleton

split sternum ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally, the sternum is split along the entire midline and almost duplicated in total width at E16.5

abnormal lumbar vertebrae morphology ( 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

• when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally, the twin ossification centers in L3 are fused at E16.5

digestive/alimentary system

cleft palate ( J:77413 )

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

renal/urinary system

decreased kidney weight ( J:77413 )

• when each allele is inherited maternally

cellular

abnormal fetal cardiomyocyte proliferation ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally, heart cell proliferation at E13.5 is increased compared to in wild-type mice

increased hepatocyte proliferation ( J:77413 )

• when each allele is inherited maternally or when H19^tm2Tilg is inherited maternally and Igf2^tm1Rob is inherited paternally