Analysis Tools
mortality/aging
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• mice die within 12 hours of birth due to cardiac defects or pulmonary failure
• the abdomen was bloated with air in about 50% of the mice
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cardiovascular system
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• a range of cardiovascular defects were detected including those that are strong indicators of cardiovascular dysfunction; however, these did not include any septal or transposition defects
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• detailed examination revealed a thin walled and poorly developed aorta
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• enlargement of the chief veins including the jugular veins, pulmonary veins, and the superior and inferior vena cava was detected which coupled with hypertrophy of the atria are strong indicators of cardiovascular dysfunction
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• the size and shape of the chambers of the heart are abnormal
• the right ventricle is smaller with a thinner wall
• however, the wall of the right atrium was dilated and thickened
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• coronal sections revealed stenosis of the aortic valve
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• a defective pulmonary valve with only two cusps was found
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• in contrast to the right ventricle the wall of the left ventricle was dilated and thickened
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craniofacial
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• the greater horn of the hyoid bone is malformed and fused to the thyroid cartilage unlike in wild-type mice
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• the lesser horn of the hyoid bone is reduced in size or absent unlike in wild-type mice
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• detailed examination revealed that the lesser horn of the hyoid bone is absent
(J:17753)
• in some mice
(J:161296)
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short maxilla
(
J:17753
)
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• the demarcation between pharyngeal arches 3 and 4 is less well defined
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• the relative position of pharyngeal arch 4 is altered
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• facial features appear abnormal due to shortened size and altered shape of the mandible and maxilla
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• shortened
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• the muscle fibers in the lower part of the tongue are disorganized
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embryo
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• the demarcation between pharyngeal arches 3 and 4 is less well defined
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• the relative position of pharyngeal arch 4 is altered
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• separated from the thyroid
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endocrine/exocrine glands
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• ultimobranchial body-derived C-cells fail to mix with the thyroid proper unlike in wild-type mice
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• separated from the thyroid
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• mice exhibit absent or ectopic ventral thyroid isthmus compared with wild-type mice
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• the ventral thyroid isthmus may be absent
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immune system
muscle
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• the ring of muscle surrounding the esophagus is absent and these mice lack control of the esophagus
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• the muscle fibers in the lower part of the tongue are disorganized
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respiratory system
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• the abnormalities detailed below together with those in the musculature result in breathing difficulties with air being pumped into the stomach and intestines and contribute to the bloated abdomen phenotype seen in these mice
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• the larynx is positioned closer to the cervical vertebrae
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• the connection of muscles to the epiglottis is disorganized and these mice lack control of the epiglottis
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• the cricoid cartilage appears shortened and thickened
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• the thyroid cartilage appears shortened and thickened
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• the larynx is narrower than normal
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• the tracheal epithelium is thicker with more convoluted surface than in wild-type mice
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small trachea
(
J:17753
)
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• the trachea is smaller and positioned closer to the cervical vertebrae
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skeleton
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• the greater horn of the hyoid bone is malformed and fused to the thyroid cartilage unlike in wild-type mice
|
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• the lesser horn of the hyoid bone is reduced in size or absent unlike in wild-type mice
|
|
• detailed examination revealed that the lesser horn of the hyoid bone is absent
(J:17753)
• in some mice
(J:161296)
|
short maxilla
(
J:17753
)
|
• the connection of muscles to the epiglottis is disorganized and these mice lack control of the epiglottis
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• the cricoid cartilage appears shortened and thickened
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• the thyroid cartilage appears shortened and thickened
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• the entire thoracic region is thrust towards the head, and the end of the clavicle is at the level of the axis rather than at the level of two cervical vertebrae caudal to the axis
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• the positioning of the bones in the neck is abnormal in mutant mice
• the larynx and the trachea are positioned much closer to the cervical vertebrae resulting in a visibly shorter neck
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nervous system
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• partial deletion of cranial nerve IX sometimes seen
(J:45337)
• the glossopharyngeal nerve is either fused to the vagus nerve or disconnected from the hind brain unlike in wild-type mice
(J:161296)
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• cranial nerve fusions sometimes seen
(J:45337)
• in some mice
(J:161296)
|
hematopoietic system
digestive/alimentary system
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• shortened
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• the muscle fibers in the lower part of the tongue are disorganized
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• the connection of muscles to the epiglottis is disorganized and these mice lack control of the epiglottis
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growth/size/body
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• facial features appear abnormal due to shortened size and altered shape of the mandible and maxilla
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• shortened
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• the muscle fibers in the lower part of the tongue are disorganized
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• bloated due to breathing air into the esophagus
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:17753 | |
