Phenotypes associated with this allele

• Allele Symbol: Igf2r^tm1Wag
• Allele Name: targeted mutation 1, Erwin F Wagner
• Allele ID: MGI:2181637
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Igf2r^tm1Wag/Igf2r^tm1Wag	involves: 129S2/SvPas	MGI:3619607
ht2	Igf2r^tm1Wag/Igf2r^+	involves: 129S2/SvPas	MGI:3521792
ht3	Igf2r^tm1Wag/Igf2r^tm2Wag	involves: 129/Sv * 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:3820081

Genotype
MGI:3619607

hm1

• Allelic Composition: Igf2r^tm1Wag/Igf2r^tm1Wag
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

neonatal lethality, complete penetrance ( J:20763 )

• null animals die soon after birth

growth/size/body

enlarged heart ( J:20763 )

• mutants have hearts 2 to 5 times the size of controls

abnormal embryonic growth/weight/body size ( J:20763 )

• homozygous knockout embryos are 30% heavier in dry weight than littermates

cardiovascular system

disorganized myocardium ( J:20763 )

• ventricular myocardium is disorganized

enlarged heart ( J:20763 )

• mutants have hearts 2 to 5 times the size of controls

respiratory system

abnormal lung morphology ( J:20763 )

• E18.5 moribund mutants have lungs that appear retarded and have poorly formed alveoli

respiratory failure ( J:20763 )

• animals cannot initiate or sustain respiration and die at birth

limbs/digits/tail

polydactyly ( J:20763 )

• animals have a single extra toe on the postaxial side of the fore and hindfeet

kinked tail ( J:20763 )

• animal have a tail bend

skeleton

short sternum ( J:20763 )

• some moribund mutants show split sternum

abnormal bone ossification ( J:20763 )

• moribund mutants have ossified extra toes and fused third and fourth sternum ossification centers

premature bone ossification ( J:20763 )

• E18.5 mutants exhibit ossification of the limb phalanges and tail vertebrae characteristic of later post-natal stages

cellular

abnormal lysosome physiology ( J:20763 )

• four of five lysosomal enzymes looked at were reduced 30-80% in embryonic fibroblasts compared to wild-type levels, although this was not apparent in E14.5 mutant embryos or hearts and livers from E18.5 embryos

muscle

disorganized myocardium ( J:20763 )

• ventricular myocardium is disorganized

Genotype
MGI:3521792

ht2

• Allelic Composition: Igf2r^tm1Wag/Igf2r⁺
• Genetic Background: involves: 129S2/SvPas

mortality/aging

postnatal lethality, complete penetrance ( J:20763 )

• heterozygous pups inheriting the maternal allele are moribund at birth or die within 2 weeks of birth

• Background Sensitivity: a small number of heterozygotes that inherited the maternal allele survive long-term on a 129/Sv * C57BL6 background but on a 129/Sv background no mutants survive

perinatal lethality, incomplete penetrance ( J:20763 )

• heterozygous pups inheriting the maternal allele are moribund at birth or die within 2 weeks of birth

growth/size/body

enlarged heart ( J:20763 )

• heterozygotes inheriting the maternal allele have hearts 2 to 5 times the size of controls

abnormal embryonic growth/weight/body size ( J:20763 )

• heterozygotes carrying the materrnal allele are 30% heavier in dry weight than littermates

cardiovascular system

disorganized myocardium ( J:20763 )

• ventricular myocardium is disorganized in heterozygotes inheriting the maternal allele

enlarged heart ( J:20763 )

• heterozygotes inheriting the maternal allele have hearts 2 to 5 times the size of controls

respiratory system

abnormal lung morphology ( J:20763 )

• E18.5 moribund mutants inheriting the maternal allele have lungs that appear retarded and have poorly formed alveoli

respiratory failure ( J:20763 )

• heterozygotes inheriting the maternal allele cannot initiate or sustain respiration and die at birth

limbs/digits/tail

polydactyly ( J:20763 )

• heterozygotes inheriting the maternal allele have a single extra toe on the postaxial side of the fore and hindfeet

kinked tail ( J:20763 )

• heterozygous animals inheriting the maternal allele have a tail bend; the tail straightens with age on those heterozygotes that survive past birth

skeleton

split sternum ( J:20763 )

• some of the moribund mutants inheriting the maternal allele show split sternum

abnormal bone ossification ( J:20763 )

• moribund mutants inheriting the maternal allele have ossified extra toes and fused third and fourth sternum ossification centers

premature bone ossification ( J:20763 )

• E18.5 mutants that inherit the maternal allele exhibit ossification of the limb phalanges and tail vertebrae characteristic of later post-natal stages

reproductive system

enlarged uterus ( J:20763 )

♀ • two surviving females that inherited the maternal allele had enlarged uteri connecting to a fused vagina rendering them infertile

vagina atresia ( J:20763 )

♀ • two surviving females that inherited the maternal allele had enlarged uteri connecting to a fused vagina rendering them infertile

craniofacial

abnormal craniofacial morphology ( J:20763 )

• following maternal transmission, animal display a facial dysmorphism

cellular

abnormal lysosome physiology ( J:20763 )

• in mutants inheriting the maternal allele, four of five lysosomal enzymes looked at were reduced 30-80% in embryonic fibroblasts compared to wild-type levels, although this was not apparent in E14.5 mutant embryos or hearts and livers from E18.5 embryos

maternal imprinting ( J:20763 )

• animals inheriting the paternal allele are viable and fertile, while those inheriting the maternal inactivated allele die at birth or postnatally with a wide variety of abnormalities

muscle

disorganized myocardium ( J:20763 )

• ventricular myocardium is disorganized in heterozygotes inheriting the maternal allele

Genotype
MGI:3820081

ht3

• Allelic Composition: Igf2r^tm1Wag/Igf2r^tm2Wag
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129S2/SvPas * C57BL/6

mortality/aging

mortality/aging ( J:68721 )

N • when the allele is inherited paternally, mice are viable

reproductive system

reproductive system phenotype ( J:68721 )

N • when the allele is inherited paternally, mice are fertile

growth/size/body

growth/size/body region phenotype ( J:68721 )

N • when the allele is inherited paternally, body weights are normal