Analysis Tools
mortality/aging
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• while Mendelian ratios are present at E16.5, only 75% of expected mice are born
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• no mice survive beyond P1 due to cardiac and/or respiratory abnormalities
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cellular
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• 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
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• at E16.5, mice exhibit an 80% reduction in the germ cell numbers in the testes and explanted germ cells fail to undergo spermatogenesis
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reproductive system
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• 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
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• at E16.5, mice exhibit an 80% reduction in the germ cell numbers in the testes and explanted germ cells fail to undergo spermatogenesis
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craniofacial
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• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
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• at birth, mice exhibit short snouts, short low chin, and thin upper lip
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• short low chin at birth
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short chin
(
J:124279
)
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• posterior palate bones fail to extend and meet along the midline
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• 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
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• the upper lip is thin at birth
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• mice exhibit a complete cleft of the secondary palate
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short snout
(
J:124279
)
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• at birth
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skeleton
short radius
(
J:124279
)
short ulna
(
J:124279
)
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• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
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• short low chin at birth
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short chin
(
J:124279
)
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• posterior palate bones fail to extend and meet along the midline
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• all mice have either unfused ossification centers or lack ossification of the sternebrae
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• loss or hypoplasia of the thirteenth rib occurs in all mice
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rib fusion
(
J:124279
)
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• 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)
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• some mice exhibit unfused ossification centers in the vertebrae (5 of 18 mice) and hyoid bone
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• some mice exhibit delayed ossification of digits and vertebrae
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cardiovascular system
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• 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)
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• 6 of 24 mice exhibit atrial septal defects of the secundum type
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• one mouse exhibited common atrioventricular canal defect
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• 12 of 24 mice exhibit ventricular septal defects
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• 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
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nervous system
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• 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
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• in 40% of mice the superior cervical ganglion is located far caudal to its normal position
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• the carotid nerves are thin in all mice and in 30% of mice there is a unilateral or bilateral absence of the carotid nerve
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growth/size/body
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• at birth, mice exhibit short snouts, short low chin, and thin upper lip
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• short low chin at birth
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short chin
(
J:124279
)
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• posterior palate bones fail to extend and meet along the midline
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• 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
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• the upper lip is thin at birth
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• mice exhibit a complete cleft of the secondary palate
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short snout
(
J:124279
)
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• at birth
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• at birth, mice are smaller exhibiting a reduced body height
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microcephaly
(
J:124279
)
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• at birth
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• fetal growth retardation occurs after E16.5
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respiratory system
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• 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
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homeostasis/metabolism
digestive/alimentary system
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• posterior palate bones fail to extend and meet along the midline
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• 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
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• mice exhibit a complete cleft of the secondary palate
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limbs/digits/tail
short radius
(
J:124279
)
short ulna
(
J:124279
)
short limbs
(
J:124279
)
integument
