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Phenotypes Associated with This Genotype
Genotype
MGI:3587032
Allelic
Composition
Hoxa13Hd/Hoxa13Hd
Genetic
Background
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa13Hd mutation (1 available); any Hoxa13 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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
• profoundly small vaginal cavity

growth/size/body
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory