Analysis Tools
mortality/aging
|
• most die at or just before birth
|
embryo
|
• indistinct midline at E8.5
|
|
• the ventral lips of the cephalic folds are fused and the floor and roof of the neural tube are almost in contact with each other at the mesencephalic/diencephalic junction at E9.5
|
|
• absent floor plate at E9.5, with the ventral region of the neural tube consisting instead of a thick epithelium
(J:35802)
• at E10.5
(J:73074)
|
|
• rostral-to-caudal loss of notochord tissue
|
nervous system
|
• the ventral lips of the cephalic folds are fused and the floor and roof of the neural tube are almost in contact with each other at the mesencephalic/diencephalic junction at E9.5
|
|
• absent floor plate at E9.5, with the ventral region of the neural tube consisting instead of a thick epithelium
(J:35802)
• at E10.5
(J:73074)
|
|
• size is reduced
|
|
• ventral forebrain structures are lost
|
|
• most of the diencephalon as an identifiable structure is absent
|
|
• the bilateral lobes of the telencephalon are fused to form a single midline structure
|
|
• absent motor neurons
|
|
• absent from the spinal cord at E10.5
|
|
• absent at E10.5
|
skeleton
|
• absence or fusion of the paired distal limb bones
|
|
• have a bony extension of the humerus in the forelimb
|
absent fibula
(
J:35802
)
|
• the fibula is absent in the hindlimb
|
absent tibia
(
J:35802
)
|
• the tibia is absent in the hindlimb
|
|
• most sclerotomal derivatives are absent
|
|
• craniofacial bones are severely affected and almost entirely absent
|
|
• most of the ribs are absent, with only 5-6 rib cartilages remaining
|
|
• most sclerotomal derivatives including the entire vertebral column are absent, with only 5-6 rib cartilages remaining
|
|
• cartilage is absent at the elbow joint
|
limbs/digits/tail
|
• have a bony extension of the humerus in the forelimb
|
|
• lack distinct forelimbs at E15.5
|
absent fibula
(
J:35802
)
|
• the fibula is absent in the hindlimb
|
absent tibia
(
J:35802
)
|
• the tibia is absent in the hindlimb
|
|
• lack distinct hindlimbs at E15.5
|
|
• distal truncations of the forelimb skeleton and loss of the autopod at E14.5
|
vision/eye
|
• there is no invagination to form the double-layered optic cups
|
|
• the optic stalks are deficient or absent
|
|
• optic vesicles are fused at the midline at E9.5, the optic stalks are deficient or absent, and there is no invagination to form the double-layered optic cups
|
craniofacial
|
• normal facial features such as the eyes, nose, and oral structures are not identifiable by E15.5
|
|
• craniofacial bones are severely affected and almost entirely absent
|
|
• have a single nasal pit at the midline instead of bilateral pits at E10.5
|
cardiovascular system
|
• abnormalities in the heart although asymmetry or early heart looping appears normal
|
renal/urinary system
respiratory system
|
• have a single nasal pit at the midline instead of bilateral pits at E10.5
|
digestive/alimentary system
growth/size/body
|
• exhibit severe growth retardation throughout most of the embryo by E15.5
|
cellular
|
• in the neural tube and somites
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| holoprosencephaly 3 | DOID:0110875 |
OMIM:142945 |
J:35802 | |
