Phenotypes associated with this allele

• Allele Symbol: Foxp1^tm1Eem
• Allele Name: targeted mutation 1, Edward E Morrisey
• Allele ID: MGI:3056542
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxp1^tm1Eem/Foxp1^tm1Eem	involves: 129S6/SvEvTac * C57BL/6	MGI:3056578
cx2	Foxp1^tm1Eem/Foxp1^tm1Eem Foxp2^tm1Bux/Foxp2^tm1Bux	involves: 129X1/SvJ * C57BL/6	MGI:4889124
cx3	Foxp1^tm1Eem/Foxp1^+ Foxp2^tm1Bux/Foxp2^tm1Bux	involves: 129X1/SvJ * C57BL/6	MGI:4889125

Genotype
MGI:3056578

hm1

• Allelic Composition: Foxp1^tm1Eem/Foxp1^tm1Eem
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:93182 )

• embryos die around E14.5

• Background Sensitivity: the penetrance of this phenotype increases with successive backcrosses to C57BL/6 (59% die after 1 generation versus 92% after 4 generations)

cardiovascular system

thin ventricle myocardium compact layer ( J:93182 )

• the compact zone of the ventricular wall is thinner at E11.5 and E14.5

disorganized myocardium ( J:93182 )

• at E11.5 the myocytes in the compact zone are disorganized

persistent truncus arteriosus ( J:93182 )

• persistent truncus arteriosis is seen in 80% of mutant embryos at E11.5 -E14.5

abnormal heart development ( J:93182 )

• a 3-fold increase in cell proliferation is seen in the trabecular zone after E12.5

conotruncal ridge hyperplasia ( J:93182 )

• more cushion mesenchyme is seen in the pulmonary and aortic valves in all mutant embryos at E14.5

• about a 70% decrease in apoptosis in the valve cushions is seen at E14.5

increased atrioventricular cushion size ( J:93182 )

• more cushion mesenchyme is seen in the mitral and tricuspid valves in 45% of mutant embryos at E14.5

• about a 70% decrease in apoptosis in the valve cushions is seen at E14.5

double outlet right ventricle ( J:93182 )

• at E14.5, 20% of mutant embryos display double outlet right ventricle

ventricular septal defect ( J:93182 )

• at E14.5 ventricular septal defects are seen

hemorrhage ( J:93182 )

• perivascular hemorrhage is seen at E14.5

decreased heart rate ( J:93182 )

• at E13.5 and E14.5 the heart rate is slower compared to wild-type embryos

irregular heartbeat ( J:93182 )

• at E13.5 and E14.5 an irregular heartbeat is detected

homeostasis/metabolism

hydrops fetalis ( J:93182 )

• edema is seen at E14.5

muscle

thin ventricle myocardium compact layer ( J:93182 )

• the compact zone of the ventricular wall is thinner at E11.5 and E14.5

disorganized myocardium ( J:93182 )

• at E11.5 the myocytes in the compact zone are disorganized

Genotype
MGI:4889124

cx2

• Allelic Composition: Foxp1^tm1Eem/Foxp1^tm1Eem; Foxp2^tm1Bux/Foxp2^tm1Bux
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

embryonic lethality, complete penetrance ( J:121421 )

• double homozygotes die prior to E11.5

growth/size/body

decreased embryo size ( J:121421 )

• double homozygous mutant embryos are severely runted

embryo

decreased embryo size ( J:121421 )

• double homozygous mutant embryos are severely runted

Genotype
MGI:4889125

cx3

• Allelic Composition: Foxp1^tm1Eem/Foxp1⁺; Foxp2^tm1Bux/Foxp2^tm1Bux
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:121421 )

• no live mutants are observed at P0-P14, although at least some survive gestation

respiratory system

abnormal lung development ( J:121421 )

• severe defects in lung airway development are observed at E14.5, E16.5 and E18.5

• >40% reduction in cell proliferation in both the lung epithelia and mesenchyme is observed, without any significant changes in apoptosis

• however, proximal-distal epithelial patterning of the lung airways is normal at E18.5

decreased mesenchymal cell proliferation involved in lung development ( J:121421 )

• >40% reduction of cell proliferation in lung mesenchyme, without any significant changes in apoptosis

abnormal branching involved in lung morphogenesis ( J:121421 )

• branching morphogenesis is reduced as shown by the dilated nature of developing airways

small lung ( J:121421 )

• overall lung size is reduced at both E14.5 and E18.5

decreased lung weight ( J:121421 )

• lung-to-body weight ratios are significantly reduced at both E17.5 and P0

dilated respiratory conducting tube ( J:121421 )

• distal airspace luminal area is significantly increased at both E14.5 (~3-fold) and E18.5 (~2-fold)

digestive/alimentary system

abnormal esophagus development ( J:121421 )

• both smooth and skeletal muscle differentiation is disrupted in mutant esophagi

• at E14.5, the smooth muscle surrounding the mutant esophagus is thinner than normal

• by E18.5, mutants display severely dilated esophagi with a very thin muscular layer

• however, no differences in apoptosis or cell proliferation are observed in mutant esophagi at E14.5

abnormal esophageal smooth muscle morphology ( J:121421 )

• at E14.5, the smooth muscle surrounding the mutant esophagus is thinner than normal

dilated esophagus ( J:121421 )

• by E18.5, mutants display severely dilated esophagi

muscle

abnormal esophageal smooth muscle morphology ( J:121421 )

• at E14.5, the smooth muscle surrounding the mutant esophagus is thinner than normal

cellular

decreased mesenchymal cell proliferation involved in lung development ( J:121421 )

• >40% reduction of cell proliferation in lung mesenchyme, without any significant changes in apoptosis