mortality/aging
|
• most homozygotes die after birth, in the first week of life
• rare survivors at weaning
|
growth/size
|
• at weaning
|
|
• noticable in utero at E18.5
|
craniofacial
|
• shortened 12% relative to controls
|
|
• mandibular hypoplasia, particularly posteriorly
|
micrognathia
(
J:142335
)
|
• mandibular hypoplasia
|
|
• shortened 12% relative to controls
• flattened
|
|
• reduced in width
|
malocclusion
(
J:142335
)
short snout
(
J:142335
)
|
• upward curvature of the nasal tip
|
broad head
(
J:142335
)
|
• widened bulbous forehead
|
skeleton
|
• shortened 12% relative to controls
|
|
• mandibular hypoplasia, particularly posteriorly
|
micrognathia
(
J:142335
)
|
• mandibular hypoplasia
|
|
• shortened 12% relative to controls
• flattened
|
|
• reduced in width
|
malocclusion
(
J:142335
)
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Williams-Beuren Syndrome; WBS | 194050 | J:142335 | |