Mouse Genome Informatics
hm
    Kif7dda/Kif7dda
FVB.A-Kif7dda
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Diaphragmatic hernia in Kif7dda/Kif7dda mice

muscle
• display a twofold increase in the number of Wt1+ and Ccnd1+ cells, an increase in total cell proliferation, and an increase in the number of proliferating Wt1+ nonmesothelial mesenchymal cells in the diaphragm at E12.5
• early bilateral accumulation of extra diaphragmatic tissue at E13.0 in the posterior region
• increase in cell number and accumulation of nonmuscular Wt1+ cells throughout the diaphragm at E13.5
• left-sided posterior diaphragmatic hernia
• left-sided communicating diaphragmatic hernia
• thickened tissue at E13.5 and E14.5
• at E14.5 almost no discernible central tendon, myotendonous junction or Scx expression are detected
• central tendon patterning defects characterized by muscle expansion into the central tendon domain in the diaphragm
• expression analysis indicates that the central tendon shows reduced differentiation and that retinoic acid signaling is perturbed

cardiovascular system
• abnormal heart position

nervous system

respiratory system

skeleton
• skeletal defects
• at E14.5 almost no discernible central tendon, myotendonous junction or Scx expression are detected
• central tendon patterning defects characterized by muscle expansion into the central tendon domain in the diaphragm
• expression analysis indicates that the central tendon shows reduced differentiation and that retinoic acid signaling is perturbed

embryogenesis

Mouse Models of Human Disease
OMIM IDRef(s)
Diaphragmatic Hernia, Congenital 142340 J:197449