Phenotypes Associated with This Genotype

Genotype
MGI:2662554

• Allelic Composition: Cflar^tm1Mak/Cflar^tm1Mak
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * CD-1)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:63049 )

• mutant embryos do not survive past E10.5

cardiovascular system

abnormal myocardial trabeculae morphology ( J:63049 )

• starting at E9-E9.5, homozygotes show signs of abnormal formation of cardiac trabeculae

• a significant reduction in cardiac trabeculation is clearly evident by E10.5

thin myocardium ( J:63049 )

• starting at E9-E9.5, homozygotes display a thinner myocardium; most severe at E10.5

delayed heart development ( J:63049 )

• at E9.5, mutant hearts fail to show rapid expansion and compaction of the myocardium and do not display the expected increase in volume of the atrium, ventricle and associated structures, indicating a delay in heart development

• however, at E9.5, the extent of apoptosis and cellular proliferation in mutant hearts is comparable to that observed in wild-type hearts

• blood vessel formation appears unaffected and normal fetal and maternal vascular networks are present at E10.5

pericardial edema ( J:63049 )

• at E9.5 or E10.5, mutant embryos display pericardial edema

distended pericardium ( J:63049 )

• at E9.5, mutant embryos display a distended pericardial cavity; most severe at E10.5

hemorrhage ( J:63049 )

• at E9.5 or E10.5, mutant embryos display hemorrhage in the head and abdominal regions

muscle

abnormal myocardial trabeculae morphology ( J:63049 )

• starting at E9-E9.5, homozygotes show signs of abnormal formation of cardiac trabeculae

• a significant reduction in cardiac trabeculation is clearly evident by E10.5

thin myocardium ( J:63049 )

• starting at E9-E9.5, homozygotes display a thinner myocardium; most severe at E10.5

homeostasis/metabolism

pericardial edema ( J:63049 )

• at E9.5 or E10.5, mutant embryos display pericardial edema

embryo

embryonic growth retardation ( J:63049 )

• at E9.5 or E10.5, mutant embryos appear mildly underdeveloped relative to wild-type embryos

growth/size/body

embryonic growth retardation ( J:63049 )

• at E9.5 or E10.5, mutant embryos appear mildly underdeveloped relative to wild-type embryos

cellular

increased fibroblast apoptosis ( J:63049 )

• mutant embryonic fibroblasts are highly sensitive to FasL- or TNF-induced apoptosis and exhibit rapid induction of caspase activities

• however, NF-kappaB and JNK/SAPK activation is intact in TNF-stimulated mutant embryonic fibroblasts