Phenotypes Associated with This Genotype

Genotype
MGI:2172075

• Allelic Composition: Ednra^tm1Ywa/Ednra^tm1Ywa
• Genetic Background: involves: 129S7/SvEvBrd

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

craniofacial

abnormal Meckel's cartilage morphology ( J:93183 )

• the body of the Meckel's cartilage is absent and at E14.5 the rostral process is hypoplastic

abnormal alisphenoid bone morphology ( J:93183 )

• the alisphenoid bones are duplicated

abnormal mandible morphology ( J:93183 )

• the lower jaw is shortened and covered with soft tissue resembling the soft tissue of the snout

• the mandible is flattened and abnormally attached to the jugal bone by a bone that appears to be a mirror image duplicate of the jugal bone

• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones

abnormal maxilla morphology ( J:93183 )

• the incisors are present but set in only a small amount of alveolar bone and residual cartilage

lower jaw to upper jaw transformation ( J:93183 )

• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones

abnormal palatine bone morphology ( J:93183 )

• both the original and duplicate palatine bones are smaller than normal

small zygomatic bone ( J:93183 )

• both the zugal bone and its mirror image duplicate are smaller than the normal jugal bone and form an abnormal joint

absent gonial bone ( J:93183 )

abnormal mouth floor morphology ( J:93183 )

• palatal rugae are abnormally present on the floor of the mouth

hearing/vestibular/ear

absent gonial bone ( J:93183 )

absent tympanic ring ( J:93183 )

skeleton

abnormal Meckel's cartilage morphology ( J:93183 )

• the body of the Meckel's cartilage is absent and at E14.5 the rostral process is hypoplastic

abnormal alisphenoid bone morphology ( J:93183 )

• the alisphenoid bones are duplicated

abnormal mandible morphology ( J:93183 )

• the lower jaw is shortened and covered with soft tissue resembling the soft tissue of the snout

• the mandible is flattened and abnormally attached to the jugal bone by a bone that appears to be a mirror image duplicate of the jugal bone

• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones

abnormal maxilla morphology ( J:93183 )

• the incisors are present but set in only a small amount of alveolar bone and residual cartilage

lower jaw to upper jaw transformation ( J:93183 )

• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones

abnormal palatine bone morphology ( J:93183 )

• both the original and duplicate palatine bones are smaller than normal

small zygomatic bone ( J:93183 )

• both the zugal bone and its mirror image duplicate are smaller than the normal jugal bone and form an abnormal joint

absent gonial bone ( J:93183 )

growth/size/body

abnormal mouth floor morphology ( J:93183 )

• palatal rugae are abnormally present on the floor of the mouth