Phenotypes associated with this allele

• Allele Symbol: Igf2r^tm1Stw
• Allele Name: targeted mutation 1, Colin L Stewart
• Allele ID: MGI:2181634
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Igf2r^tm1Stw/Igf2r^tm1Stw	involves: 129S1/Sv * C57BL/6	MGI:3820399
ht2	Igf2r^tm1Stw/Igf2r^+	involves: 129S1/Sv * C57BL/6	MGI:3820400
cx3	Rr28^tm1Tilg/Rr28^+ Igf2^tm1Rob/Igf2^+ Igf2r^tm1Stw/Igf2r^+	involves: 129S/SvEv * 129S1/Sv * C57BL/6J	MGI:3845907

Genotype
MGI:3820399

hm1

• Allelic Composition: Igf2r^tm1Stw/Igf2r^tm1Stw
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:22124 )

• mice die at birth

limbs/digits/tail

kinked tail ( J:22124 )

Genotype
MGI:3820400

ht2

• Allelic Composition: Igf2r^tm1Stw/Igf2r⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

mortality/aging

decreased survivor rate ( J:22124 )

• when this allele is inherited maternally, only 3.4% of mice from one breeding pair survived to adulthood

neonatal lethality, incomplete penetrance ( J:22124 )

• when this allele is inherited maternally, nearly all mice die within 12 hours of birth due to respiratory failure

• however, when this allele is inherited paternally mice exhibit normal survival and phenotype

reproductive system

absent endometrial glands ( J:22124 )

♀ • in surviving mice when this allele is inherited maternally

abnormal external female genitalia morphology ( J:22124 )

♀ • when this allele is inherited maternally, surviving mice exhibit vulval closure

thin endometrium ( J:22124 )

♀ • when this allele is inherited maternally, surviving mice exhibit reduced endometrium thickness compared to in wild-type mice

enlarged uterus ( J:22124 )

♀ • when this allele is inherited maternally, the uterus of mice that survive to adulthood is 7 times larger than in wild-type mice due to fluid accumulation secondary to an imperforate vagina

vagina atresia ( J:22124 )

♀ • when this allele is inherited maternally, surviving mice exhibit imperforate vagina

female infertility ( J:22124 )

♀ • two viable females recovered with a maternally inherited allele were infertile

reduced male fertility ( J:22124 )

♂ • of the two viable males recovered one was infertile while the other was fertile

cardiovascular system

abnormal myocardium layer morphology ( J:22124 )

• when this allele is inherited maternally, mice exhibit myocardium hyperplasia

abnormal tricuspid valve development ( J:22124 )

• when this allele is inherited maternally, the tricuspid valve develops poorly

abnormal interventricular septum morphology ( J:22124 )

• when this allele is inherited maternally, the intraventricular septum develops large, blood-filled sinusoids and reduced cell thickness to no more than 2 cells in diameter unlike in wild-type mice

enlarged heart ( J:22124 )

• when this allele is inherited maternally, heart size is 3 times larger than in wild-type mice at E19 and is enalrged in surviving mice

increased heart weight ( J:22124 )

• when this allele is inherited maternally

increased heart right ventricle size ( J:22124 )

• when this allele is inherited maternally

respiratory system

respiratory distress ( J:22124 )

• when this allele is inherited maternally, some mice have difficulty breathing

respiratory failure ( J:22124 )

• when this allele is inherited maternally, most mice fail to breath at birth

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:22124 )

N • despite an increase in serum Igf2 levels, glucose serum levels are normal

abnormal circulating hormone level ( J:22124 )

• when this allele is inherited maternally, Igf2 serum levels are increased compared to in wild-type mice

cyanosis ( J:22124 )

• at birth when this allele is inherited maternally

embryo

increased placenta weight ( J:22124 )

• when this allele is inherited maternally, the weight of placenta and fetal membranes is increased 25% to 30% compared to in wild-type mice at E17 and continues to increase throughout the rest of the pregnancy unlike in wild-type mice

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:22124 )

• when this allele is inherited maternally, mice are unable to move effectively unlike wild-type mice

absent suckling reflex ( J:22124 )

• when this allele is inherited maternally

growth/size/body

enlarged heart ( J:22124 )

• when this allele is inherited maternally, heart size is 3 times larger than in wild-type mice at E19 and is enalrged in surviving mice

increased heart weight ( J:22124 )

• when this allele is inherited maternally

increased birth body size ( J:22124 )

• when this allele is inherited maternally, mice are larger at birth with proportional increases in liver and lung weights

limbs/digits/tail

kinked tail ( J:22124 )

• when this allele is inherited maternally

endocrine/exocrine glands

absent endometrial glands ( J:22124 )

♀ • in surviving mice when this allele is inherited maternally

muscle

abnormal myocardium layer morphology ( J:22124 )

• when this allele is inherited maternally, mice exhibit myocardium hyperplasia

Genotype
MGI:3845907

cx3

• Allelic Composition: Rr28^tm1Tilg/Rr28⁺; Igf2^tm1Rob/Igf2⁺; Igf2r^tm1Stw/Igf2r⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

mortality/aging

neonatal lethality, complete penetrance ( J:77413 )

• when Igf2r^tm1Stw and H19^tm2Tilg are inherited maternally and Igf2^tm1Rob is inherited paternally, mice die immediately after birth

limbs/digits/tail

polydactyly ( J:77413 )

• when Igf2r^tm1Stw and H19^tm2Tilg are inherited maternally and Igf2^tm1Rob is inherited paternally, mice exhibit postaxial polydactyly that is confined to a single forelimb

growth/size/body

increased fetal weight ( J:77413 )

• when Igf2r^tm1Stw and H19^tm2Tilg are inherited maternally and Igf2^tm1Rob is inherited paternally, mice weigh 135% of wild-type