Mouse Genome Informatics
cn1
    Shox2tm1Ddu/Shox2tm1.1Ddu
Tg(Prrx1-cre)1Cjt/0

involves: 129S2/SvPas * C57BL/6J * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males Euro Europhenome
N normal phenotype

Limb phenotype of Shox2tm1Ddu/Shox2tm1.1Ddu Tg(Prrx1-cre)1Cjt mice

mortality/aging
N
• provided adequate access to food and water homozygotes are viable (J:107668)

limbs/digits/tail
• development of the forelimb stylopod elements is severely impaired; however development of the forelimb zeugopd elements is similar to wild-type mice
• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb
• development of the hindlimb stylopod elements is severely impaired
• virtually absent at birth with only a tiny cartilage analage which lacks ossification is seen; in adults ossification is seen but little bone growth occurs
• the hindlimb zeugopod is also shorter
• markedly bowed

skeleton
• virtually absent at birth with only a small abnormal dorsal piece remaining that does not span the axis of the limb
• virtually absent at birth with only a tiny cartilage analage which lacks ossification is seen; in adults ossification is seen but little bone growth occurs
• markedly bowed
• hypertrophic chondrocytes eventually appear in the humerus but are in abnormal asymmetric locations blocking formation of the growth plate
• at E12.5, the humerus and femur cartilages are already significantly shorter (by about 50%) than in wild-type
• by E14.5 the humerus and femur cartilage malformation is as severe as in newborns
• chondrocyte differentiation in the humerus is impaired with markers for immature cells (Col2a1) still present at E18.5 and expression of later markers greatly decreased or absent