digestive/alimentary system
• 5 of 6 females exhibit a reduced ano-vaginal distance
|
• 2 of 3 males exhibit bowel obstructions
|
renal/urinary system
• one third of females exhibit urinary tract defects
|
kidney cyst
(
J:58731
)
• 3 of 18 females exhibit cystic kidneys
|
• 2 of 3 males exhibit cystic bladders
|
• 1 of 18 females exhibt a hypoplastic kidney
|
• the proximal part of the penial bone is mishapen
|
• the proximal part of the penial bone is smaller
|
• urethra is abnormally located within the serosal layer in females
|
• 1 of 18 females lack a bladder
|
• 1 of 3 males exhibit a hypoplastic bladder
|
• 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity
|
reproductive system
• 5 of 6 females exhibit a reduced ano-vaginal distance
|
• the proximal part of the penial bone is mishapen
|
• the proximal part of the penial bone is smaller
|
• 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity
|
• stromal tissue surrounding the cervical canals is smaller and the cervical canal is greatly reduced in size
• the columnar-to-squamosal epithelial transition that characterizes mature cervical-vaginal tissue is positioned within uterine-like stroma rather than cervical tissue
• exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype
|
• cervix is hypoplastic
|
• 5 of 18 females exhibit enlarged, fluid-filled uterine horns
|
small vagina
(
J:58731
)
• profoundly small vaginal cavity
|
growth/size/body
kidney cyst
(
J:58731
)
• 3 of 18 females exhibit cystic kidneys
|
• 2 of 3 males exhibit cystic bladders
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hand-foot-genital syndrome | DOID:0060739 |
OMIM:140000 |
J:58731 |