Mouse Genome Informatics
hm1
    F5tm1Dgi/F5tm1Dgi
involves: 129S2/SvPas * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• the remaining 50% were obtained at birth but generally died from intra-abdominal hemorrhage within 2 hours of birth
• however, one of 60 mutant pups survived until P10, and a second pup died immediately following a tail biopsy at P14
• about 50% of mutant embryos died at E9-E10
• a decrease in surviving embryos became evident by E11.5, with highly significant differences at E15.5 and E18.5

cardiovascular system
• at birth, ~50% of homozygotes displayed massive intra-abdominal hemorrhage
• occasionally, homozygotes showed cutaneous bleeding, particularly over the head
• scattered microscopic hemorrhages were detected in various tissues, most commonly in the mesenchyme of the face

embryogenesis
• at E9.5, many homozygous null embryos had only 12-16 somites (versus 20-25 somites in wild-type), indicating a developmental delay
• by E9.5, wild-type, heterozygous and ~60% of homozygous null embryos had a well developed heartbeat and yolk-sac circulation; the remaining homozygotes showed some degree of abnormal yolk-sac organization
• in these mutants, the yolk-sac circulation appeared sluggish, and the yolk sac had a granular appearance
• in 5/11 yolk sacs from E9.5 null embryos, the visceral endoderm appeared flattened, with few blood islands
• the remaining six appeared to have slightly fewer hematopoietic precursors, but vascular plexes were present in the mesoderm


Mouse Genome Informatics
cx2
    F2rtm1Ajc/F2rtm1Ajc
F5tm1Dgi/F5tm1Dgi

B6.Cg-F5tm1Dgi F2rtm1Ajc
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• only 4% of double mutant embryos survive to E12.5
• this rate is significantly lower than that of either F2rtm1Ajc or F5tm1Dgi single mutants (52% or 67% at E12.5, respectively)

cardiovascular system
• double homozygous mutant embryos exhibit pericardial effusions
• double mutant embryos are pale and display bleeding in the exocoelomic cavity
• double mutant embryos exhibit bleeding in the pericardial cavity

embryogenesis
• double homozygous mutant embryos appear runted and necrotic

growth/size/body
• double homozygous mutant embryos appear runted and necrotic

homeostasis/metabolism
• double homozygous mutant embryos exhibit pericardial effusions
• double mutant embryos exhibit bleeding in the pericardial cavity