Mouse Genome Informatics
ht1
    Sox9tm1Crm/Sox9+
involves: 129S7/SvEvBrd * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Skeletal malformations of Sox9tm1Crm/Sox9+ mice

mortality/aging
• lethal by 20 hours after birth
• delayed or defective precartilagenous condensations observed at E18, result in lethal defects at birth, especially cleft palate

craniofacial
• hyoid bone is thinner and bent in the center with the central part of the bone missing in severely affected mutants
• Meckel's cartilage is interrupted and bent toward the body midline at E14.5
• bilateral cleft of the secondary palate at birth
• bifurcated tongue

skeleton
• hyoid bone is thinner and bent in the center with the central part of the bone missing in severely affected mutants
• Meckel's cartilage is interrupted and bent toward the body midline at E14.5
• thinner laryngeal cartilage
• tracheal rings are thinner
• variable degrees of bilateral and anterior bending of long bones
• prominent by E14.5 and occurs in the middle of the bone shaft
• prominent by E14.5; bending is most severe in the ulnae
• angulation of the ulnae is more anterior in the bone shaft than in the radii
• prominent by E14.5
• the blades of scapulae consist of two parts that are not completely connected at E14.5
• only the two ends of the spines are present, with the major central part missing at E14.5
• at E18.5
• manubrium sternum is missing or exhibits anterior bending
• sternebrae are thinner and not as regular as in wildtype in neonates
• xyphoid process is abnormal with a much smaller xiphoid cartilage
• ilium is thinner
• ilium is angulated in severely affected mutants
• ischium is thin
• bending of the pubic bone in severely affected mutants
• smaller and thinner
• all endochondral skeletal elements of E14.5 mutants are smaller and thinner
• cartilage hypoplasia; involves nearly all skeletal elements derived from endochondral ossifications
• development of cartilage primordia is delayed and smaller in size at E12.5
• abnormal bending of cartilage elements observed at E14.5
• hypertrophic zone is larger
• premature mineralization occurs in many bones, especially the vertebrae and craniofacial bones

digestive/alimentary system
• bilateral cleft of the secondary palate at birth
• bifurcated tongue
• heterozygous mutants accumulate air in their stomachs and intestines

limbs/digits/tail
• prominent by E14.5 and occurs in the middle of the bone shaft
• prominent by E14.5; bending is most severe in the ulnae
• angulation of the ulnae is more anterior in the bone shaft than in the radii
• prominent by E14.5
• frequently exhibit a crooked tail

respiratory system
• thinner laryngeal cartilage
• tracheal rings are thinner
• heterozygous mutants display gasping respiration and accumulate air in their stomachs and intestines

growth/size
• heterozygous mutants accumulate air in their stomachs and intestines

Mouse Models of Human Disease
OMIM IDRef(s)
Campomelic Dysplasia 114290 J:69875


Mouse Genome Informatics
cx2
    Col2a1tm1(SOX9)Crm/Col2a1+
Sox9tm1Crm/Sox9+

involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 70% die immediately after birth

growth/size
• 30% of heterozygotes are viable and fertile but very small by 14 days of age

skeleton
• mild hypoplasia of skeletal elements but normal palate and no distortions in long bones, scapula, pelvis, or rib cage