Mouse Genome Informatics
hm
    Hoxd13tm1Ddu/Hoxd13tm1Ddu
either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size
• weight deficit (~10%) for first few months of life

reproductive system
(J:15507)

embryogenesis
• prechondrogenic patterns of cellular condensations of digits delayed

limbs/digits/tail
• digits III and IV are stiffer than wild-type
• reduction and deformation of phalangeal bones
• the second phalanges are either reduced in digits III and IV, or absent in digits II and V
• reduction in size of forelimb digits, especially digits II and IV, and the hindlimb digits, especially digits I, II, and V
• about 50% have an additional rudimentary digit posteriorly
• fusion of bones is observed at articulations
• the metacarpal and first phalange of digit II are often fused in a single bone rod
• the sesamold bones are sometimes partially fused to the phalangeal bone
• sesamold bones are either absent, reduced, or partially fused to the phalangeal bone
• the large bone (d4) of the carpus is split into two carpal bones

skeleton
• reduction and deformation of phalangeal bones
• the second phalanges are either reduced in digits III and IV, or absent in digits II and V
• sesamold bones are either absent, reduced, or partially fused to the phalangeal bone
• the large bone (d4) of the carpus is split into two carpal bones
• reduction and deformation of metacarpal bones
• metatarsal I is largely deformed with an anterior protrusion
• shorter and thicker metatarsal bones
• sacral vertebra 4 (S4) fused to sacral vertebra 3 (S3)
• delayed ossification of extremities

Mouse Models of Human Disease
OMIM IDRef(s)
Synpolydactyly 1; SPD1 186000 J:15507