About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hoxa13Hd
hypodactyly
MGI:1857336
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Hoxa13Hd/Hoxa13Hd B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J MGI:3587032
hm2
 		Hoxa13Hd/Hoxa13Hd involves: MYA/Hu MGI:3587024
ht3
 		Hoxa13Hd/Hoxa13+ B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J MGI:3587031
ht4
 		Hoxa13Hd/Hoxa13+ involves: MYA/Hu MGI:3587027
cx5
 		Hoxa13Hd/Hoxa13+
Tg(Prrx1-Sox9,-lacZ)1Haak/0 		involves: C57BL/6 * DBA/2 * MYA/Hu MGI:3840968


Genotype
MGI:3587032
hm1
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
short perineum ( J:58731 )
• 5 of 6 females exhibit a reduced ano-vaginal distance
intestinal obstruction ( J:58731 )
• 2 of 3 males exhibit bowel obstructions

renal/urinary system
abnormal renal/urinary system morphology ( J:58731 )
• one third of females exhibit urinary tract defects
kidney cyst ( J:58731 )
• 3 of 18 females exhibit cystic kidneys
urinary bladder cyst ( J:58731 )
• 2 of 3 males exhibit cystic bladders
renal hypoplasia ( J:58731 )
• 1 of 18 females exhibt a hypoplastic kidney
abnormal penile bone morphology ( J:58731 )
• the proximal part of the penial bone is mishapen
small penile bone ( J:58731 )
• the proximal part of the penial bone is smaller
abnormal female urethra morphology ( J:58731 )
• urethra is abnormally located within the serosal layer in females
absent urinary bladder ( J:58731 )
• 1 of 18 females lack a bladder
urinary bladder hypoplasia ( J:58731 )
• 1 of 3 males exhibit a hypoplastic bladder
vesicovaginal fistula ( J:58731 )
• 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity

reproductive system
short perineum ( J:58731 )
• 5 of 6 females exhibit a reduced ano-vaginal distance
abnormal penile bone morphology ( J:58731 )
• the proximal part of the penial bone is mishapen
small penile bone ( J:58731 )
• the proximal part of the penial bone is smaller
vesicovaginal fistula ( J:58731 )
• 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity
abnormal uterine cervix morphology ( J:58731 )
• 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
uterine cervix hypoplasia ( J:58731 )
• cervix is hypoplastic
dilated uterine horn ( J:58731 )
• 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
urinary bladder cyst ( J:58731 )
• 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




Genotype
MGI:3587024
hm2
Allelic
Composition		 Hoxa13Hd/Hoxa13Hd
Genetic
Background		 involves: MYA/Hu
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
mortality/aging
lethality throughout fetal growth and development, incomplete penetrance ( J:5211 )
• most die before E16, though a few survive to maturity

growth/size/body
decreased body size ( J:64253 )
postnatal growth retardation ( J:64253 )

reproductive system

limbs/digits/tail
brachydactyly ( J:5211 , J:64253 )
• short single digit on each paw that has a terminal claw (J:5211)
ectrodactyly ( J:5211 )
• progression of ectrodactyly appears to be from pre- to postaxial sites, with the forepaw showing more advanced ectrodactyly than the hind paw, seen in the few homozygotes that survive to maturity
monodactyly ( J:5211 , J:64253 )
• single short digit on each fore and hind foot (J:64253)
abnormal carpal bone morphology ( J:5211 )
• carpals are misshapen, fused, and missing in the few homozygotes that survive to maturity
abnormal tarsal bone morphology ( J:5211 )
• tarsal defects in the few homozygotes that survive to maturity
abnormal metacarpal bone morphology ( J:5211 )
• metacarpal defects in the few homozygotes that survive to maturity
abnormal metatarsal bone morphology ( J:5211 )
• metatarsal defects in the few homozygotes that survive to maturity

renal/urinary system
hydronephrosis ( J:5211 )
• some that die neonatally have severe hydronephrosis

skeleton
abnormal carpal bone morphology ( J:5211 )
• carpals are misshapen, fused, and missing in the few homozygotes that survive to maturity
abnormal tarsal bone morphology ( J:5211 )
• tarsal defects in the few homozygotes that survive to maturity
abnormal metacarpal bone morphology ( J:5211 )
• metacarpal defects in the few homozygotes that survive to maturity
abnormal metatarsal bone morphology ( J:5211 )
• metatarsal defects in the few homozygotes that survive to maturity

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hand-foot-genital syndrome DOID:0060739 OMIM:140000
 J:5211 , J:64253




Genotype
MGI:3587031
ht3
Allelic
Composition		 Hoxa13Hd/Hoxa13+
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
endocrine/exocrine glands
abnormal ampullary gland morphology ( J:54823 )
• decrease in the number of duct tips in the ampullary gland
abnormal prostate gland anterior lobe morphology ( J:54823 )
• 29% have one lobe of the coagulating gland duct that has a single main duct
small prostate gland dorsolateral lobe ( J:54823 )
• 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate
decreased prostate gland duct number ( J:54823 )
• decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate
small prostate gland ventral lobe ( J:54823 )
• 43% have a smaller ventral prostate
abnormal seminal vesicle morphology ( J:54823 )
• seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches
abnormal branching involved in seminal vesicle morphogenesis ( J:54823 )
• little secondary and tertiary branching is observed
small seminal vesicle ( J:54823 )
• 86% have seminal vesicles that are two thirds the size of wild-type

reproductive system
abnormal ampullary gland morphology ( J:54823 )
• decrease in the number of duct tips in the ampullary gland
abnormal prostate gland anterior lobe morphology ( J:54823 )
• 29% have one lobe of the coagulating gland duct that has a single main duct
small prostate gland dorsolateral lobe ( J:54823 )
• 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate
decreased prostate gland duct number ( J:54823 )
• decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate
small prostate gland ventral lobe ( J:54823 )
• 43% have a smaller ventral prostate
abnormal seminal vesicle morphology ( J:54823 )
• seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches
abnormal branching involved in seminal vesicle morphogenesis ( J:54823 )
• little secondary and tertiary branching is observed
small seminal vesicle ( J:54823 )
• 86% have seminal vesicles that are two thirds the size of wild-type
abnormal uterine cervix morphology ( J:58731 )
• exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hand-foot-genital syndrome DOID:0060739 OMIM:140000
 J:54823




Genotype
MGI:3587027
ht4
Allelic
Composition		 Hoxa13Hd/Hoxa13+
Genetic
Background		 involves: MYA/Hu
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
mortality/aging

limbs/digits/tail
brachydactyly ( J:5211 , J:64253 )
• varied amount of shortening of the first phalanx of the hallux and forefeet have very short first digits (J:5211)
hindlimb oligodactyly ( J:5211 )
• exhibit loss of the terminal phalanx of the first digit (hallux or great toe) of each hindfoot
absent hallux ( J:121946 )
• on the hindlimb, digit 1 is absent
syndactyly ( J:64253 )
• sometimes exhibit a varied amount of webbing of digits 2, 3, and 4




Genotype
MGI:3840968
cx5
Allelic
Composition		 Hoxa13Hd/Hoxa13+
Tg(Prrx1-Sox9,-lacZ)1Haak/0
Genetic
Background		 involves: C57BL/6 * DBA/2 * MYA/Hu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa13Hd mutation (1 available); any Hoxa13 mutation (29 available)
Tg(Prrx1-Sox9,-lacZ)1Haak mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
abnormal hallux morphology ( J:121946 )
• on the hindlimb digit 1 is present but small
abnormal phalanx morphology ( J:121946 )
• the proximal phalanx of hindlimb digit 1 is incomplete
polydactyly ( J:121946 )
• pre and post axial polydactyly

skeleton
abnormal phalanx morphology ( J:121946 )
• the proximal phalanx of hindlimb digit 1 is incomplete




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory