Phenotypes Associated with This Genotype

Genotype
MGI:3718120

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Skeletal image of newborn Sox9^tm2Crm/Sox9^tm2Crm H2az2^{Tg(Wnt1-cre)11Rth}/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:84790 )

• die in the immediate postnatal period from respiratory distress

respiratory system

absent nasal capsule ( J:84790 )

absent thyroid cartilage ( J:84790 )

• absent thyroid cartilage

respiratory distress ( J:84790 )

craniofacial

abnormal craniofacial bone morphology ( J:84790 )

abnormal cranium morphology ( J:84790 )

absent basisphenoid bone ( J:84790 )

absent styloid process ( J:84790 )

absent Meckel's cartilage ( J:84790 )

absent presphenoid bone ( J:84790 )

abnormal hyoid bone morphology ( J:84790 )

absent hyoid bone body ( J:84790 )

• the body of the hyoid is missing

absent hyoid bone lesser horns ( J:84790 )

• the lesser horns are missing

small mandible ( J:84790 )

short mandible ( J:84790 )

domed cranium ( J:84790 )

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

abnormal craniofacial development ( J:84790 )

• all elements derived from the second and third branchial arches are missing

absent nasal capsule ( J:84790 )

cleft secondary palate ( J:84790 )

• large cleft secondary palate

short snout ( J:84790 )

skeleton

abnormal craniofacial bone morphology ( J:84790 )

abnormal cranium morphology ( J:84790 )

absent basisphenoid bone ( J:84790 )

absent styloid process ( J:84790 )

absent Meckel's cartilage ( J:84790 )

absent presphenoid bone ( J:84790 )

abnormal hyoid bone morphology ( J:84790 )

absent hyoid bone body ( J:84790 )

• the body of the hyoid is missing

absent hyoid bone lesser horns ( J:84790 )

• the lesser horns are missing

small mandible ( J:84790 )

short mandible ( J:84790 )

domed cranium ( J:84790 )

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

absent nasal capsule ( J:84790 )

absent thyroid cartilage ( J:84790 )

• absent thyroid cartilage

abnormal skeleton development ( J:84790 )

• no discernible chondrogenic mesenchyme condensations are seen at E13.5

abnormal bone ossification ( J:84790 )

• all cartilages and endochondral bones in the prechordal region are missing at E18.5

• endochondrial bone formation derived from cranial neural crest cells is missing, however cranial neural crest cells appear to migrate normally to their target locations

digestive/alimentary system

cleft secondary palate ( J:84790 )

• large cleft secondary palate

hearing/vestibular/ear

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

growth/size/body

absent basisphenoid bone ( J:84790 )

absent presphenoid bone ( J:84790 )

abnormal hyoid bone morphology ( J:84790 )

absent hyoid bone body ( J:84790 )

• the body of the hyoid is missing

absent hyoid bone lesser horns ( J:84790 )

• the lesser horns are missing

small mandible ( J:84790 )

short mandible ( J:84790 )

absent nasal capsule ( J:84790 )

cleft secondary palate ( J:84790 )

• large cleft secondary palate

short snout ( J:84790 )