Phenotypes Associated with This Genotype

Genotype
MGI:3587188

• Allelic Composition: Hoxd13^spdh/Hoxd13^spdh
• Genetic Background: B6C3Fe a/a-Hoxd13^spdh/J

• ♀: 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

abnormal digit morphology ( J:47974 )

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

abnormal digit development ( J:71694 )

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

male infertility ( J:47974 )

♂

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