Analysis Tools
mortality/aging
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• growth retarded mutants with malocclusion typically die within 2 months from insufficient eating
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growth/size/body
malocclusion
(
J:117748
)
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• growth retarded mutants have severe malocclusion
• all mutants with malocclusion have kyphosis
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• mutants with malocclusion have prominent hemifacial microsomia
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• mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa
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• mutants with malocclusion have asymmetric low set ears
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• seen in 8.9% of mutants at weaning age (numbers pooled from both males and females)
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embryo
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• exhibit left-right axis abnormalities that include dextrocardia and asplenia in one male
• however, do not exhibit pulmonary isomerism or complete left-right reversal of the lung lobes
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cardiovascular system
dextrocardia
(
J:117748
)
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• seen in 6.9% of E14.5-15.5 fetuses and 7.9% of 4-week old adults (numbers pooled from both males and females)
• however, do not observe dextro-transposition of the great arteries, interrupted aortic arch, or right aortic arch
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• one male was found with thoraco-cervical ectopia cordis, a very rare congenital malformation in which the heart is located partially in the cervical region (anterior displacement compared to wild-type) but the cranial end of the sternum is split; ectopia cordis has not been previously reported in live born mice
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skeleton
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• asymmetric length and shape of the hyoid bone
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• aplasia of the greater horns of the hyoid bone
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malocclusion
(
J:117748
)
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• growth retarded mutants have severe malocclusion
• all mutants with malocclusion have kyphosis
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• mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature
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• mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible
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• seen in mutants with malocclusion
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• seen in mutants with malocclusion
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• mutants with malocclusion exhibit asymmetric position of the zygomatic bone
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• failure of fusion of cricoid cartilage in the midline
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• at a very low penetrance level, lack the 13th rib
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• 45.8% develop thoracolumbar kyphosis by 2 months of age (numbers pooled from both males and females)
• however, no vertebral body defects are seen
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• 14.6% develop thoracolumbar scoliosis by 2 months of age (numbers pooled from both males and females)
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hearing/vestibular/ear
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• mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa
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• mutants with malocclusion have asymmetric low set ears
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limbs/digits/tail
kinked tail
(
J:117748
)
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• 8.3% exhibit kinked tails (numbers pooled from both males and females)
• however, no neural tube malformations are detected in embryos
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respiratory system
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• failure of fusion of cricoid cartilage in the midline
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vision/eye
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• low penetrance of unilateral congenital cataract
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craniofacial
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• asymmetric length and shape of the hyoid bone
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• aplasia of the greater horns of the hyoid bone
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malocclusion
(
J:117748
)
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• growth retarded mutants have severe malocclusion
• all mutants with malocclusion have kyphosis
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• mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature
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• mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible
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• seen in mutants with malocclusion
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• seen in mutants with malocclusion
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• mutants with malocclusion exhibit asymmetric position of the zygomatic bone
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• mutants with malocclusion have prominent hemifacial microsomia
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• mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa
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• mutants with malocclusion have asymmetric low set ears
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Goldenhar syndrome | DOID:2907 |
OMIM:164210 |
J:117748 | |
