Phenotypes Associated with This Genotype

Genotype
MGI:5495415

• Allelic Composition: Kif7^dda/Kif7^dda
• Genetic Background: FVB.A-Kif7^dda

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

Diaphragmatic hernia in Kif7^dda/Kif7^dda mice

muscle

abnormal diaphragm development ( J:197449 )

• 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

abnormal diaphragm central tendon morphology ( J:197449 )

• 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

diaphragm muscle hyperplasia ( J:197449 )

diaphragmatic hernia ( J:197449 )

• left-sided posterior diaphragmatic hernia

• left-sided communicating diaphragmatic hernia

thick diaphragm muscle ( J:197449 )

• thickened tissue at E13.5 and E14.5

cardiovascular system

abnormal heart position or orientation ( J:197449 )

• abnormal heart position

ventricular septal defect ( J:197449 )

nervous system

abnormal neural tube morphology ( J:197449 )

• neural tube defects

respiratory system

pulmonary hypoplasia ( J:197449 )

skeleton

abnormal skeleton morphology ( J:197449 )

• skeletal defects

abnormal diaphragm central tendon morphology ( J:197449 )

• 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

abnormal neural tube morphology ( J:197449 )

• neural tube defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:197449