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Phenotypes Associated with This Genotype
Genotype
MGI:3587188
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 (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
N
• no difference in caspase 3 staining of limbs is detected, indicating that increased apoptosis is not causative
• in both front and rear feet
• both fore- and hindpaws have markedly shortened digits with absence of the second phalanges and an abnormal aspect of the digits
• in both front and rear feet (J:47974)
• sometimes found in hindpaws but with incomplete penetrance (J:71694)
• in both front and rear feet
• reduction in size and number of tarsal bones in all four feet
• reduction in size and number of carpal bones in all four feet, however long bones of the limb appear normal
• reduction in number of metacarpal bones in all four feet
• reduction in size of metacarpal bones in all four feet
• metatarsal bones are ill-shaped
• reduction in number of metatarsal bones in all four feet
• reduction in size of metatarsal bones in all four feet

reproductive system
• absent preputial glands in both sexes
• absent preputial glands in both sexes
• seminal vesicles exhibit decreased folding
• however, testes, epididymis and spermatogenesis appeared normal

endocrine/exocrine glands
• absent preputial glands in both sexes
• absent preputial glands in both sexes
• seminal vesicles exhibit decreased folding
• however, testes, epididymis and spermatogenesis appeared normal

skeleton
• reduction in size and number of tarsal bones in all four feet
• reduction in size and number of carpal bones in all four feet, however long bones of the limb appear normal
• reduction in number of metacarpal bones in all four feet
• reduction in size of metacarpal bones in all four feet
• metatarsal bones are ill-shaped
• reduction in number of metatarsal bones in all four feet
• reduction in size of metatarsal bones in all four feet
• ossification of metacarpals, metatarsals and some phalanges was not visible at P0.5 and ossification centers were unpatterned at P6
• 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 preputial glands in both sexes

integument
• absent preputial glands in both sexes
• absent preputial glands in both sexes

Mouse Models of Human Disease
OMIM ID Ref(s)
Synpolydactyly 1; SPD1 186000 J:47974


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory