Analysis Tools
embryo
sirenomelia
(
J:192045
)
|
• hindlimb fusion similar to sirenomelia
• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)
|
|
• marker analysis indicates abnormal anterior peri-cloacal mesenchyme formation resulting in hypoplastic anterior peri-cloacal mesenchyme
|
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• the location of hindlimb bud is closely apposed to one another
• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing
• however, the proximal-distal axis of the hindlimb bud is maintained
|
digestive/alimentary system
limbs/digits/tail
|
• defective fibula formation, with fibula aberrantly located medially or absent
|
|
• defective hindlimb initiation
|
sirenomelia
(
J:192045
)
|
• hindlimb fusion similar to sirenomelia
• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)
|
|
• the location of hindlimb bud is closely apposed to one another
• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing
• however, the proximal-distal axis of the hindlimb bud is maintained
|
renal/urinary system
|
• dysgenesis of pelvic/urogenital organs
|
|
• bladder aplasia
|
reproductive system
|
• hypoplasia of external genitalia
|
skeleton
|
• defective fibula formation, with fibula aberrantly located medially or absent
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| physical disorder | DOID:0080015 | J:192045 | ||
