mortality/aging
• die within at most 12 hours following cesarian delivery at E18.5
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embryo
• 100% penetrance of agenesis of the Mullerian duct
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cardiovascular system
• aberrant origin of the right pulmonary artery from the ipsilateral arch of the aorta in 1 of 9 mutants and aberrant origin of the right pulmonary artery from ipsilateral common carotid in 1 of 9 mutants
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• seen in many mutants
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• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses
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• 2 of 6 mutants show a double inferior vena cava and 1 of 6 mutants exhibit absence of the inferior vena cava
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• 100% penetrance at E14.5 and E18.5
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• cono-truncal septum is absent in 100% of mutants
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• 100% penetrance of high ventricular septal defect
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craniofacial
• 8 of 8 (100%) mutants show a basioccipital without a hypoglossal nerve foramen
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• 1 of 8 (13%) mutants show fusion of the basioccipital with C1-AA
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• 4 of 6 mutants exhibit a pterygoquadrate element
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• 3 of 6 mutants exhibit an abnormal gonial bone
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• 2 of 6 mutants exhibit imperforated stapes
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• absence of the intercrural foramen of the stapes
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digestive/alimentary system
• agenesis of the anal canal; 100% penentrance
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• 100% of mutants lack the esophagotracheal septum
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• 2 of 6 mutants at E18.5 show shortening of the sublingual duct
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endocrine/exocrine glands
• 2 of 6 mutants at E18.5 show shortening of the sublingual duct
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• mutants exhibit a persistent cervical thymus (a complete thymic lobe in the neck region) and/or the absence of one or both thymic lobes
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hearing/vestibular/ear
• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses
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• 4 of 6 mutants exhibit a pterygoquadrate element
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• 3 of 6 mutants exhibit an abnormal gonial bone
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• 2 of 6 mutants exhibit imperforated stapes
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• absence of the intercrural foramen of the stapes
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hematopoietic system
• mutants exhibit a persistent cervical thymus (a complete thymic lobe in the neck region) and/or the absence of one or both thymic lobes
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immune system
• mutants exhibit a persistent cervical thymus (a complete thymic lobe in the neck region) and/or the absence of one or both thymic lobes
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muscle
• 3 of 6 mutants at E18.5 exhibit diaphragmatic hernia
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nervous system
• lack the foramen of the hypoglossal nerve
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renal/urinary system
• 5 of 6 mutants exhibit hydronephrosis, probably secondary to ectopic ureteral openings or involution of the caudal ureter
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• 100% penetrance
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• 3 of 6 mutants exhibit agenesis of the caudal ureter at E18.5
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• all mutants at E14.5 and 4 of 6 mutants at E18.5 exhibit ectopic ureteral openings
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reproductive system
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• agenesis of the oviduct
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absent uterus
(
J:43344
)
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• agenesis of the uterus
|
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• agenesis of the cranial vagina
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respiratory system
• 100% of mutants lack the esophagotracheal septum
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• 100% of mutants have a misshapen arytenoid cartilage
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• 100% of mutants have a misshapen cricoid cartilage
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• 7 of 8 (88%) mutants show a thyroid cartilage fused to hyoid bone
• 100% of mutants have a misshapen thyroid cartilage
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• lung agenesis or hypoplasia
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• 100% of mutants have tracheal cartilage malformations
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skeleton
• 100% of mutants show skeletal malformations
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• 8 of 8 (100%) mutants show a basioccipital without a hypoglossal nerve foramen
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• 4 of 6 mutants exhibit a pterygoquadrate element
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• 3 of 6 mutants exhibit an abnormal gonial bone
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• 2 of 6 mutants exhibit imperforated stapes
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• absence of the intercrural foramen of the stapes
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• 100% of mutants show a xiphoid process malformation; xiphoid process shows delayed ossification
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• 1 of 8 (13%) mutants show fusion of the basioccipital with C1-AA
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• 5 of 8 (63%) mutants show fusion of C1-AA with C2 dens
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• 1 of 8 (13%) mutants show a bifid C1
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• 2 of 8 (25%) mutants show a bifid C2
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• 7 of 8 (88%) mutants show dyssymphysis of C1 neural arch
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• 4 of 8 (50%) mutants show fusions of neural arches of C2 and C3
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• 3 of 8 (38%) mutants show anterior transformation of C2 to C1
• 6 of 8 (76%) mutants show anterior transformation of C6 to C5
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• 5 of 8 (63%) mutants show anterior transformation of L1 to T14
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• 100% of mutants have a misshapen arytenoid cartilage
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• 100% of mutants have a misshapen cricoid cartilage
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• 7 of 8 (88%) mutants show a thyroid cartilage fused to hyoid bone
• 100% of mutants have a misshapen thyroid cartilage
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• 100% of mutants have tracheal cartilage malformations
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vision/eye
• complete penetrance of persistent hyperplastic primary vitreous
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