Analysis Tools
mortality/aging
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• fewer than 2% of homozygous mutants survive to birth; E16.5 was the last day homozygous mutant embryos were successfully recovered in utero
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cardiovascular system
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• cervical emergence of the right subclavian artery in 40% of mutant mice
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• left atrium is small and white in some E16.5 embryos
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• right atrium is enlarged and engorged with blood in some E16.5 embryos
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• all exhibit a ventricular septal defect
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craniofacial
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• E16.5 embryos exhibit mild cranial skeleton defects and about 12% of homozygotes show severe craniofacial abnormalities
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• anterior-posterior expansion of the frontal bone is limited in 50% of embryos
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• nasal bones exhibit poor membranous ossification at the posterior edge at E16.5
• anterior-posterior expansion of the nasal bones is limited in 50% of embryos
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endocrine/exocrine glands
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• 40% have abnormalities in the development of the parathyroid gland; defects include an ectopic or unilaterally absent parathyroid gland, or a parathyroid gland fused to an ectopic thymus
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• 40% have abnormalities in the development of the thymus; thymus is hypoplastic, malpositioned, malformed (fused lobes) or completely missing at E16.5
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• 40% have abnormalities in the development of the thyroid gland
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hearing/vestibular/ear
immune system
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• 40% have abnormalities in the development of the thymus; thymus is hypoplastic, malpositioned, malformed (fused lobes) or completely missing at E16.5
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vision/eye
nervous system
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• defects in neural crest-derived portions of the IXth nerves at E10.5
• glial cells are either absent or greatly reduced in the proximal region of nerve IX
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• defects in neural crest-derived portions of the Vth nerves at E10.5
• subset of embryos show a reduced size or misshapen ophthalmic lobe of the Vth ganglion
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• defects in neural crest-derived portions of the Xth nerves at E10.5
• glial cells are either absent or greatly reduced in the proximal region of nerve X
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growth/size/body
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• nasal bones exhibit poor membranous ossification at the posterior edge at E16.5
• anterior-posterior expansion of the nasal bones is limited in 50% of embryos
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• surviving mice weigh about 10-20% less than wild-type
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skeleton
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• anterior-posterior expansion of the frontal bone is limited in 50% of embryos
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• nasal bones exhibit poor membranous ossification at the posterior edge at E16.5
• anterior-posterior expansion of the nasal bones is limited in 50% of embryos
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hematopoietic system
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• 40% have abnormalities in the development of the thymus; thymus is hypoplastic, malpositioned, malformed (fused lobes) or completely missing at E16.5
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integument
respiratory system
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• nasal bones exhibit poor membranous ossification at the posterior edge at E16.5
• anterior-posterior expansion of the nasal bones is limited in 50% of embryos
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:67826 | |
| velocardiofacial syndrome | DOID:12583 |
OMIM:192430 |
J:67826 | |
