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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hoxd13spdh
synpolydactyly homolog
MGI:1857397
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Hoxd13spdh/Hoxd13spdh B6C3Fe a/a-Hoxd13spdh/J MGI:3587188
ht2
 		Hoxd13spdh/Hoxd13+ B6C3Fe a/a-Hoxd13spdh/J MGI:3801685
ht3
 		Hoxd13spdh/Hoxd13tm1Ddu involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J MGI:3802654
cx4
 		Del(2Hoxd11-Hoxd13)29Ddu/+
Hoxd13spdh/Hoxd13+ 		involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J MGI:3802653
cx5
 		Hoxa13tm1Ipc/Hoxa13+
Hoxd13spdh/Hoxd13+ 		involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J MGI:3802656
cx6
 		Hoxa13tm1Ipc/Hoxa13+
Hoxd13spdh/Hoxd13spdh 		involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J MGI:3802672


Genotype
MGI:3587188
hm1
Allelic
Composition		 Hoxd13spdh/Hoxd13spdh
Genetic
Background		 B6C3Fe a/a-Hoxd13spdh/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13spdh mutation (1 available); any Hoxd13 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
limbs/digits/tail phenotype ( J:71694 )
N
• no difference in caspase 3 staining of limbs is detected, indicating that increased apoptosis is not causative
abnormal carpal bone morphology ( J:47974 )
• reduction in size and number of carpal bones in all four feet, however long bones of the limb appear normal
brachydactyly ( J:47974 )
• in both front and rear feet
ectrodactyly ( J:71694 )
• both fore- and hindpaws have markedly shortened digits with absence of the second phalanges and an abnormal aspect of the digits
polydactyly ( J:47974 , J:71694 )
• in both front and rear feet (J:47974)
• sometimes found in hindpaws but with incomplete penetrance (J:71694)
syndactyly ( J:47974 )
• in both front and rear feet
abnormal tarsal bone morphology ( J:47974 )
• reduction in size and number of tarsal bones in all four feet
decreased metacarpal bone number ( J:47974 )
• reduction in number of metacarpal bones in all four feet
short metacarpal bones ( J:47974 )
• reduction in size of metacarpal bones in all four feet
abnormal metatarsal bone morphology ( J:71694 )
• metatarsal bones are ill-shaped
decreased metatarsal bone number ( J:47974 )
• reduction in number of metatarsal bones in all four feet
short metatarsal bones ( J:47974 )
• reduction in size of metatarsal bones in all four feet

reproductive system
absent female preputial gland ( J:47974 )
• absent preputial glands in both sexes
absent male preputial gland ( J:47974 )
• absent preputial glands in both sexes
abnormal seminal vesicle morphology ( J:47974 )
• seminal vesicles exhibit decreased folding
• however, testes, epididymis and spermatogenesis appeared normal

endocrine/exocrine glands
absent female preputial gland ( J:47974 )
• absent preputial glands in both sexes
absent male preputial gland ( J:47974 )
• absent preputial glands in both sexes
abnormal seminal vesicle morphology ( J:47974 )
• seminal vesicles exhibit decreased folding
• however, testes, epididymis and spermatogenesis appeared normal

skeleton
abnormal carpal bone morphology ( J:47974 )
• reduction in size and number of carpal bones in all four feet, however long bones of the limb appear normal
abnormal tarsal bone morphology ( J:47974 )
• reduction in size and number of tarsal bones in all four feet
decreased metacarpal bone number ( J:47974 )
• reduction in number of metacarpal bones in all four feet
short metacarpal bones ( J:47974 )
• reduction in size of metacarpal bones in all four feet
abnormal metatarsal bone morphology ( J:71694 )
• metatarsal bones are ill-shaped
decreased metatarsal bone number ( J:47974 )
• reduction in number of metatarsal bones in all four feet
short metatarsal bones ( J:47974 )
• reduction in size of metatarsal bones in all four feet
abnormal bone ossification ( J:47974 )
• ossification of metacarpals, metatarsals and some phalanges was not visible at P0.5 and ossification centers were unpatterned at P6
delayed endochondral bone ossification ( J:71694 )
• developing forelimbs at embryonic day 12.5 have much less collagen type II expression than in wildtype and at 8 days after birth ossification centers are absent from the paws

renal/urinary system
absent male preputial gland ( J:47974 )
• absent preputial glands in both sexes

integument
absent female preputial gland ( J:47974 )
• absent preputial glands in both sexes
absent male preputial gland ( J:47974 )
• absent preputial glands in both sexes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
synpolydactyly DOID:0060242 OMIM:186000
OMIM:608180
OMIM:610234
 J:47974




Genotype
MGI:3801685
ht2
Allelic
Composition		 Hoxd13spdh/Hoxd13+
Genetic
Background		 B6C3Fe a/a-Hoxd13spdh/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13spdh mutation (1 available); any Hoxd13 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
ectrodactyly ( J:71694 )
• a subtle reduction in the length of the second phalanges in digits II and V is scored in approximately 30% of the cases




Genotype
MGI:3802654
ht3
Allelic
Composition		 Hoxd13spdh/Hoxd13tm1Ddu
Genetic
Background		 involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13spdh mutation (1 available); any Hoxd13 mutation (24 available)
Hoxd13tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
abnormal phalanx morphology ( J:71694 )
• thickening of digits and longitudinal fusion of phalanges in digits III and IV
ectrodactyly ( J:71694 )
• full disappearance of the second phalanges in digits II and V

reproductive system
reduced male fertility ( J:71694 )
• although males homozygous for either mutation are sterile, the majority of these trans-heterozygotes are fertile

skeleton
abnormal phalanx morphology ( J:71694 )
• thickening of digits and longitudinal fusion of phalanges in digits III and IV
delayed endochondral bone ossification ( J:71694 )
• at 8 days of age the paws have some delay in the ossification process although ossification centers are observed




Genotype
MGI:3802653
cx4
Allelic
Composition		 Del(2Hoxd11-Hoxd13)29Ddu/+
Hoxd13spdh/Hoxd13+
Genetic
Background		 involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(2Hoxd11-Hoxd13)29Ddu mutation (2 available); any Del(2Hoxd11-Hoxd13)29Ddu mutation (2 available)
Hoxd13spdh mutation (1 available); any Hoxd13 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
ectrodactyly ( J:71694 )
• less pronounced than in homozygotes of either component mutation
polydactyly ( J:71694 )
• variable syndactyly of digits III and IV, along with a supernumerary digit in between

reproductive system
reduced male fertility ( J:71694 )
• although males homozygous for either mutation are sterile, approximately 60% of these trans-heterozygotes are fertile

skeleton
delayed endochondral bone ossification ( J:71694 )
• at 8 days of age the paws have some delay in the ossification process although ossification centers are observed




Genotype
MGI:3802656
cx5
Allelic
Composition		 Hoxa13tm1Ipc/Hoxa13+
Hoxd13spdh/Hoxd13+
Genetic
Background		 involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa13tm1Ipc mutation (0 available); any Hoxa13 mutation (29 available)
Hoxd13spdh mutation (1 available); any Hoxd13 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
ectrodactyly ( J:71694 )
• absence of the second phalanges in digits II and V




Genotype
MGI:3802672
cx6
Allelic
Composition		 Hoxa13tm1Ipc/Hoxa13+
Hoxd13spdh/Hoxd13spdh
Genetic
Background		 involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa13tm1Ipc mutation (0 available); any Hoxa13 mutation (29 available)
Hoxd13spdh mutation (1 available); any Hoxd13 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
abnormal autopod morphology ( J:71694 )
• completely truncated autopod with barely recognizable very shortened digits that are fused laterally to each other

skeleton

vision/eye




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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory