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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




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11/12/2024
MGI 6.24 		The Jackson Laboratory