mortality/aging
• 46% of mice die by 3 weeks
|
skeleton
• abnormal neural crest derived and thoracic skeleton
|
• 43% of mice have reduced calvarial bones at the midline with increases in the gaps between frontal bones
|
• increases in the gaps between frontal bones
|
• all homozygous mice have smaller presphenoid bone processes that are less extended towards the midline
|
• all homozygous mice have smaller palatine bone processes that are less extended towards the midline
|
• 43% of mice have sternum defects including asymmetric or additional fusion of ribs and gaps in the sternum
|
• 43% of mice have widened vertebral arches and forked vertebrae
|
• 43% of mice have widened vertebral arches and forked vertebrae
|
renal/urinary system
• glomeruli are often degraded
• smooth muscle cell number is reduced in the glomeruli
• migration of smooth muscle cells in glomeruli is impaired
|
small kidney
(
J:117491
)
pale kidney
(
J:117491
)
• decrease in kidney function
|
• kidney is swollen in sections and blood filled
|
growth/size/body
• irregularities in fusion persist into adulthood
|
• all homozygous mice have smaller palatine bone processes that are less extended towards the midline
|
broad snout
(
J:117491
)
• snout is shorter and wider than in wild-type mice
|
short snout
(
J:117491
)
• snout is shorter and wider than in wild-type mice
|
homeostasis/metabolism
muscle
• smooth muscle cell number is reduced in the glomeruli
|
cellular
• migration of smooth muscle cells in glomeruli is impaired
|
• mouse embryonic fibroblast cells show reduced migration in a scratch test in response to PDGF stimulation
|
immune system
• kidney is swollen in sections and blood filled
|
craniofacial
• 43% of mice have reduced calvarial bones at the midline with increases in the gaps between frontal bones
|
• increases in the gaps between frontal bones
|
• all homozygous mice have smaller presphenoid bone processes that are less extended towards the midline
|
• irregularities in fusion persist into adulthood
|
• all homozygous mice have smaller palatine bone processes that are less extended towards the midline
|
broad snout
(
J:117491
)
• snout is shorter and wider than in wild-type mice
|
short snout
(
J:117491
)
• snout is shorter and wider than in wild-type mice
|
digestive/alimentary system
• irregularities in fusion persist into adulthood
|
• all homozygous mice have smaller palatine bone processes that are less extended towards the midline
|
respiratory system