Phenotypes associated with this allele

• Allele Symbol: Col2a1^tm1(SOX9)Crm
• Allele Name: targeted mutation 1, Benoit de Crombrugghe
• Allele ID: MGI:3045169
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col2a1^tm1(SOX9)Crm/Col2a1^+	129S/Sv-Col2a1^tm1(SOX9)Crm	MGI:3045417
cx2	Col2a1^tm1(SOX9)Crm/Col2a1^+ Sox9^tm1Crm/Sox9^+	involves: 129S4/SvJae	MGI:3045418

Genotype
MGI:3045417

ht1

• Allelic Composition: Col2a1^tm1(SOX9)Crm/Col2a1⁺
• Genetic Background: 129S/Sv-Col2a1^tm1(SOX9)Crm

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

cellular

decreased chondrocyte proliferation ( J:90567 )

• chondrocyte proliferation reduced about 50%

mortality/aging

neonatal lethality, incomplete penetrance ( J:90567 )

• 80% die immediately after birth

craniofacial

abnormal craniofacial bone morphology ( J:90567 )

abnormal basicranium morphology ( J:90567 )

• delayed maturation and ossification

abnormal hyoid bone morphology ( J:90567 )

• delayed maturation and ossification

domed cranium ( J:90567 )

cleft secondary palate ( J:90567 )

• after E16.5, cleft secondary palate

short snout ( J:90567 )

• observed after E16.5

growth/size/body

abnormal hyoid bone morphology ( J:90567 )

• delayed maturation and ossification

cleft secondary palate ( J:90567 )

• after E16.5, cleft secondary palate

short snout ( J:90567 )

• observed after E16.5

decreased body size ( J:90567 )

• 20% of heterozygotes are viable and fertile but are growth retarded

limbs/digits/tail

radius hypoplasia ( J:90567 )

respiratory system

respiratory distress ( J:90567 )

• cause of death in newborns

• result of secondary palate and rib cage abnormalities

skeleton

decreased chondrocyte proliferation ( J:90567 )

• chondrocyte proliferation reduced about 50%

radius hypoplasia ( J:90567 )

decreased length of long bones ( J:90567 )

• endochondral bone elements all shorter

abnormal axial skeleton morphology ( J:90567 )

abnormal craniofacial bone morphology ( J:90567 )

abnormal basicranium morphology ( J:90567 )

• delayed maturation and ossification

abnormal hyoid bone morphology ( J:90567 )

• delayed maturation and ossification

domed cranium ( J:90567 )

small thoracic cage ( J:90567 )

• small rib cage

abnormal vertebrae morphology ( J:90567 )

• fused interlaminar joints of cervical and thoracic vertebrae in some cases

abnormal cartilage morphology ( J:90567 )

abnormal long bone epiphyseal plate morphology ( J:90567 )

• distortions in growth plates

digestive/alimentary system

cleft secondary palate ( J:90567 )

• after E16.5, cleft secondary palate

Genotype
MGI:3045418

cx2

• Allelic Composition: Col2a1^tm1(SOX9)Crm/Col2a1⁺; Sox9^tm1Crm/Sox9⁺
• Genetic Background: involves: 129S4/SvJae

mortality/aging

neonatal lethality, incomplete penetrance ( J:90567 )

• 70% die immediately after birth

growth/size/body

decreased body size ( J:90567 )

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

skeleton

abnormal skeleton development ( J:90567 )

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