Phenotypes Associated with This Genotype

Genotype
MGI:3044095

• Allelic Composition: Sox9^tm1Crm/Sox9⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Skeletal malformations of Sox9^tm1Crm/Sox9⁺ mice

mortality/aging

neonatal lethality, complete penetrance ( J:69875 )

• lethal by 20 hours after birth

• delayed or defective precartilagenous condensations observed at E18, result in lethal defects at birth, especially cleft palate

craniofacial

abnormal Meckel's cartilage morphology ( J:69875 )

• Meckel's cartilage is interrupted and bent toward the body midline at E14.5

abnormal hyoid bone morphology ( J:69875 )

• hyoid bone is thinner and bent in the center with the central part of the bone missing in severely affected mutants

short mandible ( J:69875 )

micrognathia ( J:69875 )

cleft secondary palate ( J:69875 )

• bilateral cleft of the secondary palate at birth

bilateral cleft palate ( J:69875 )

bifurcated tongue ( J:69875 )

• bifurcated tongue

skeleton

abnormal Meckel's cartilage morphology ( J:69875 )

• Meckel's cartilage is interrupted and bent toward the body midline at E14.5

abnormal hyoid bone morphology ( J:69875 )

• hyoid bone is thinner and bent in the center with the central part of the bone missing in severely affected mutants

short mandible ( J:69875 )

micrognathia ( J:69875 )

abnormal laryngeal cartilage morphology ( J:69875 )

• thinner laryngeal cartilage

abnormal tracheal cartilage morphology ( J:69875 )

• tracheal rings are thinner

abnormal long bone morphology ( J:69875 )

• variable degrees of bilateral and anterior bending of long bones

absent deltoid tuberosity ( J:69875 )

bowed radius ( J:69875 )

• prominent by E14.5 and occurs in the middle of the bone shaft

bowed ulna ( J:69875 )

• 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

bowed tibia ( J:69875 )

• prominent by E14.5

abnormal scapula morphology ( J:69875 )

• the blades of scapulae consist of two parts that are not completely connected at E14.5

abnormal scapular spine morphology ( J:69875 )

• only the two ends of the spines are present, with the major central part missing at E14.5

small scapula ( J:69875 )

• at E18.5

abnormal sternum morphology ( J:69875 )

• manubrium sternum is missing or exhibits anterior bending

abnormal sternebra morphology ( J:69875 )

• sternebrae are thinner and not as regular as in wildtype in neonates

abnormal xiphoid process morphology ( J:69875 )

• xyphoid process is abnormal with a much smaller xiphoid cartilage

short sternum ( J:69875 )

abnormal ilium morphology ( J:69875 )

• ilium is thinner

• ilium is angulated in severely affected mutants

abnormal ischium morphology ( J:69875 )

• ischium is thin

abnormal pubis morphology ( J:69875 )

• bending of the pubic bone in severely affected mutants

small pubis ( J:69875 )

• smaller and thinner

small thoracic cage ( J:69875 )

abnormal skeleton development ( J:69875 )

• all endochondral skeletal elements of E14.5 mutants are smaller and thinner

abnormal cartilage development ( J:69875 )

• 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

increased width of hypertrophic chondrocyte zone ( J:69875 )

• hypertrophic zone is larger

abnormal bone mineralization ( J:69875 )

• premature mineralization occurs in many bones, especially the vertebrae and craniofacial bones

digestive/alimentary system

cleft secondary palate ( J:69875 )

• bilateral cleft of the secondary palate at birth

bilateral cleft palate ( J:69875 )

bifurcated tongue ( J:69875 )

• bifurcated tongue

meteorism ( J:69875 )

• heterozygous mutants accumulate air in their stomachs and intestines

limbs/digits/tail

absent deltoid tuberosity ( J:69875 )

bowed radius ( J:69875 )

• prominent by E14.5 and occurs in the middle of the bone shaft

bowed ulna ( J:69875 )

• 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

bowed tibia ( J:69875 )

• prominent by E14.5

abnormal tail morphology ( J:69875 )

• frequently exhibit a crooked tail

respiratory system

abnormal laryngeal cartilage morphology ( J:69875 )

• thinner laryngeal cartilage

abnormal tracheal cartilage morphology ( J:69875 )

• tracheal rings are thinner

respiratory distress ( J:69875 )

• heterozygous mutants display gasping respiration and accumulate air in their stomachs and intestines

growth/size/body

cleft secondary palate ( J:69875 )

• bilateral cleft of the secondary palate at birth

bilateral cleft palate ( J:69875 )

bifurcated tongue ( J:69875 )

• bifurcated tongue

meteorism ( J:69875 )

• heterozygous mutants accumulate air in their stomachs and intestines

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:69875