Phenotypes associated with this allele

• Allele Symbol: Rr27^tm1Kpfe
• Allele Name: targeted mutation 1, Karl Pfeifer
• Allele ID: MGI:2655218
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Rr27^tm1Kpfe/Rr27^tm1Kpfe Tg(CD2-cre)1Sriv/?	involves: 129S1/Sv * 129X1/SvJ	MGI:3722122
cn2	Rr27^tm1Kpfe/Rr27^+ Tg(Tpbpa-cre,-EGFP)5Jcc/0	involves: 129S1/Sv * 129X1/SvJ	MGI:7287525
cn3	Rr27^tm1Kpfe/Rr27^tm1Kpfe Tg(Ckmm-cre)5Khn/0	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:3722124

Genotype
MGI:3722122

cn1

• Allelic Composition: Rr27^tm1Kpfe/Rr27^tm1Kpfe; Tg(CD2-cre)1Sriv/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

cellular

cellular phenotype ( J:82595 )

N • methylation at the H19 promoter is normal

Genotype
MGI:7287525

cn2

• Allelic Composition: Rr27^tm1Kpfe/Rr27⁺; Tg(Tpbpa-cre,-EGFP)5Jcc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

embryo

embryo phenotype ( J:325552 )

N • normal fetal and placental weight

N • born at expected Mendelian ratios

abnormal trophoblast giant cell morphology ( J:325552 )

♀ • 96% volume increase of trophoblast giant cells (TGC) in females

abnormal maternal decidual layer morphology ( J:325552 )

• reduced volume

abnormal placenta junctional zone morphology ( J:325552 , J:325552 , J:325552 )

• 3x increase in cell proliferation (J:325552)

• normal apoptosis (J:325552)

♀ • 43% volume increase in females (J:325552)

♀ • 51% volume increase of glycogen cells (GC), 33% of spongiotrophoblasts (SpT) and 96% of trophoblast giant cells (TGC) in females (J:325552)

♀ • 63% increase in number of glycogen cells (GC) in females (J:325552)

♀ • normal distribution and size of glycogen cells (GC) and and spongiotrophoblasts (SpT) in females (J:325552)

♂ • 20% volume increase in males (J:325552)

♂ • 22% spongiotrophoblast (SpT) volume increase in males (J:325552)

♂ • normal distribution and size of spongiotrophoblasts (SpT) and distribution, number and size of glycogen cells (GC) in males (J:325552)

increased spongiotrophoblast cell number ( J:325552 , J:325552 )

♀ • 44% increase in spongiotrophoblast cell number in females (J:325552)

♂ • 34% increase in spongiotrophoblast cell number in males (J:325552)

decreased placental labyrinth size ( J:325552 )

reproductive system

abnormal maternal decidual layer morphology ( J:325552 )

• reduced volume

growth/size/body

growth/size/body region phenotype ( J:325552 )

N • normal fetal and placental weight

Genotype
MGI:3722124

cn3

• Allelic Composition: Rr27^tm1Kpfe/Rr27^tm1Kpfe; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

cellular

abnormal imprinting ( J:82798 )

• maternal allele imprinting is lost

• however, imprinting at the H19 promoter in the paternal allele is normal