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Phenotypes Associated with This Genotype
Genotype
MGI:5495415
Allelic
Composition
Kif7dda/Kif7dda
Genetic
Background
FVB.A-Kif7dda
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif7dda mutation (0 available); any Kif7 mutation (22 available)
phenotype observed in females
phenotype observed in males
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
• neural tube defects

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

embryo
• neural tube defects

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory