Phenotypes Associated with This Genotype

Genotype
MGI:2175149

• Allelic Composition: Nkx2-5^tm1Wehi/Nkx2-5^tm1Wehi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/10

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:27443 )

• homozygotes die at ~E9.0-E10.0, probably as a result of early hemodynamic insufficiency

cardiovascular system

abnormal myocardium layer morphology ( J:27443 )

• at E9.0-E9.5, mutant hearts lack an association between the endocardium and the myocardial wall

absent trabeculae carneae ( J:27443 )

disorganized myocardium ( J:27443 )

• at E9.0-E9.5, homozygotes show reduced adhesion between myocytes of the inner mural layer of the myocardium

abnormal cardiac outflow tract development ( J:27443 )

• at E8.5, homozygotes display a stepped ventricular-outflow tract junction

abnormal fetal atrioventricular canal morphology ( J:27443 )

• at E8.5, homozygotes exhibit an open atrioventricular (AV) chamber and absence of an AV canal

• at E9-E9.5, some AV demarcation is evident, but the AV canal fails to elongate; the AV chamber becomes distended

absent atrioventricular cushions ( J:27443 )

failure of heart looping ( J:27443 )

• at E8.5, homozygotes fail to initiate looping morphogenesis

abnormal heart tube morphology ( J:27443 )

• at E8.5, homozygotes display an abnormal linear heart tube with a bulbous ventricular chamber

abnormal sinus venosus morphology ( J:27443 )

• after E9.0, homozygotes exhibit distension of the sinus venosus

abnormal heart shape ( J:27443 )

• at >E9.0, mutant hearts exhibit a variably abnormal shape that is often biased towards the left and lacks a dextroloop

abnormal heart ventricle shape ( J:27443 )

• at E8.5, mutant heart tubes remain linear with a bulbous ventricular chamber

pericardial edema ( J:27443 )

• at ~E9.0, homozygotes develop pericardial edema

poor circulation ( J:27443 )

• homozygotes display hemodynamic insufficiency

embryo

embryonic growth retardation ( J:27443 )

• at E8.5 and thereafter, all homozygotes exhibit severe growth retardation

decreased embryo size ( J:27443 )

• at E11, homozygotes exhibit a size comparable to that observed in E8.5-E9.0 wild-type embryos

abnormal somite development ( J:27443 )

• homozygotes deviate from normal development at the 15- to 20-somite stage

incomplete somite formation ( J:27443 )

• homozygotes never develop beyond the 24-somite stage

growth/size/body

embryonic growth retardation ( J:27443 )

• at E8.5 and thereafter, all homozygotes exhibit severe growth retardation

decreased embryo size ( J:27443 )

• at E11, homozygotes exhibit a size comparable to that observed in E8.5-E9.0 wild-type embryos

homeostasis/metabolism

edema ( J:27443 )

• at E9.0, homozygotes begin to develop generalized edema

pericardial edema ( J:27443 )

• at ~E9.0, homozygotes develop pericardial edema

muscle

abnormal myocardium layer morphology ( J:27443 )

• at E9.0-E9.5, mutant hearts lack an association between the endocardium and the myocardial wall

absent trabeculae carneae ( J:27443 )

disorganized myocardium ( J:27443 )

• at E9.0-E9.5, homozygotes show reduced adhesion between myocytes of the inner mural layer of the myocardium

abnormal myogenesis ( J:27443 )

• homozygotes exhibit defective heart myogenesis