Analysis Tools
mortality/aging
|
• no mice survive beyond P1 due to cardiac and/or respiratory abnormalities
|
|
• while Mendelian ratios are present at E16.5, only 75% of expected mice are born
|
cellular
|
• at E12.5, fewer germ cells are identified and there is a 30% reduction in in the number of dividing germ cells
• fewer germ cells are found in the testes and ovaries with the testes being more severely affected
• however, no defects in chromatid cohesion are observed
|
 |
• at E16.5, mice exhibit an 80% reduction in the germ cell numbers in the testes and explanted germ cells fail to undergo spermatogenesis
|
reproductive system
|
• at E12.5, fewer germ cells are identified and there is a 30% reduction in in the number of dividing germ cells
• fewer germ cells are found in the testes and ovaries with the testes being more severely affected
• however, no defects in chromatid cohesion are observed
|
|
|
• at E16.5, mice exhibit an 80% reduction in the germ cell numbers in the testes and explanted germ cells fail to undergo spermatogenesis
|
craniofacial
|
• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
|
|
• at birth, mice exhibit short snouts, short low chin, and thin upper lip
|
|
• short low chin at birth
|
short chin
(
J:124279
)
|
• posterior palate bones fail to extend and meet along the midline
|
|
• at E14.5, the palatine shelf is abnormal
• at E18.5, the medial-edge epithelia of the two palatine shelves are shorter and fail to fuse
|
|
• the upper lip is thin at birth
|
|
• mice exhibit a complete cleft of the secondary palate
|
short snout
(
J:124279
)
|
• at birth
|
skeleton
short radius
(
J:124279
)
short ulna
(
J:124279
)
|
• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
|
|
• short low chin at birth
|
short chin
(
J:124279
)
|
• posterior palate bones fail to extend and meet along the midline
|
|
• loss or hypoplasia of the thirteenth rib occurs in all mice
|
rib fusion
(
J:124279
)
|
• some mice exhibit a fusion of an extensively ossified rib analge at C7 and the costal cartilage of the T1 rib (10 of 18 mice)
|
|
• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
|
|
• all mice have either unfused ossification centers or lack ossification of the sternebrae
|
|
• some mice exhibit delayed ossification of digits and vertebrae
|
cardiovascular system
|
• 15 of 24 mice have heart defects including atrial septal defects of the secundum type (in 6 of 24 mice), ventricular septal defects (in 12 of 24 mice), and common atrioventricular canal defect (in one mouse)
|
|
• 6 of 24 mice exhibit atrial septal defects of the secundum type
|
|
• one mouse exhibited common atrioventricular canal defect
|
|
• 12 of 24 mice exhibit ventricular septal defects
|
|
• one mouse had a large perimembranous ventricular septal defect with anterior malaligment of the outlet septum causing the aorta to shift over the ventricular septal defect towards the right ventricle
|
nervous system
|
• at E12.5, enteric nervous system precursors fail to migrate past the ileocecal junction
• neuron density in the distal bowl is lower than in wild-type mice
• 70% of mice exhibit varying degrees of abnormal innervation and ganglion formation in the distal colon
• however, the small bowel is innervated normally
|
|
• in 40% of mice the superior cervical ganglion is located far caudal to its normal position
|
|
• the carotid nerves are thin in all mice and in 30% of mice there is a unilateral or bilateral absence of the carotid nerve
|
growth/size/body
|
• at birth, mice exhibit short snouts, short low chin, and thin upper lip
|
|
• short low chin at birth
|
short chin
(
J:124279
)
|
• posterior palate bones fail to extend and meet along the midline
|
|
• at E14.5, the palatine shelf is abnormal
• at E18.5, the medial-edge epithelia of the two palatine shelves are shorter and fail to fuse
|
|
• the upper lip is thin at birth
|
|
• mice exhibit a complete cleft of the secondary palate
|
short snout
(
J:124279
)
|
• at birth
|
|
• at birth, mice are smaller exhibiting a reduced body height
|
microcephaly
(
J:124279
)
|
• at birth
|
|
• fetal growth retardation occurs after E16.5
|
respiratory system
|
• at birth, mice exhibit signs of respiratory distress such as labored breathing, use of accessory muscles of respiration as indicated by head bobbing and intercostals and abdominal retractions, cyanosis and pallor
|
homeostasis/metabolism
digestive/alimentary system
|
• posterior palate bones fail to extend and meet along the midline
|
|
• at E14.5, the palatine shelf is abnormal
• at E18.5, the medial-edge epithelia of the two palatine shelves are shorter and fail to fuse
|
|
• mice exhibit a complete cleft of the secondary palate
|
limbs/digits/tail
short radius
(
J:124279
)
short ulna
(
J:124279
)
short limbs
(
J:124279
)
integument
