mortality/aging
• mice fail to survive past birth
|
vision/eye
• less severely affected mice exhibit eyes open at birth
|
anophthalmia
(
J:326009
)
• the most severely affected E18 mutants have missing eyes
|
craniofacial
• less severely affected mice have craniofacial abnormalities such as short snouts or craniosynostosis
|
short snout
(
J:326009
)
• seen in less severely affected mice
|
skeleton
• seen in less severely affected mice
|
integument
• more severely affected E18 mutants show skin stratification defects including loss of basal and suprabasal markers
• differentiated skin layers are substantially reduced in more severely affected mutants
|
• the epidermis appears incompletely attached to the underlying dermis is more severely affected mutants
|
• the most severely affected E18 mutants show friable poorly formed skin easily sloughing from the body
|
growth/size/body
short snout
(
J:326009
)
• seen in less severely affected mice
|
omphalocele
(
J:326009
)
• the most severely affected E18 mutants have open ventral walls
|
• the most severely affected E18 mutants are undersized
|
cardiovascular system
• the most severely affected E18 mutants hypovascularized
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Xia-Gibbs Syndrome | DOID:0070055 |
OMIM:615829 |
J:326009 |