Phenotypes Associated with This Genotype

Genotype
MGI:3581014

• Allelic Composition: Sox9^tm1.1Gsr/Sox9⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:75124 )

• die shortly after birth due to respiratory failure caused by cleft palate

craniofacial

cleft secondary palate ( J:75124 )

skeleton

abnormal humerus morphology ( J:75124 )

absent deltoid tuberosity ( J:75124 )

• deltoid tuberosity of the humerus is missing

scapular bone hypoplasia ( J:75124 )

• hypoplastic and malformed scapula

abnormal skeleton development ( J:75124 )

• exhibit bone malformations typically observed in campomelic dysplasia patients

abnormal bone mineralization ( J:75124 )

• premature mineralization occurs in many skeletal elements, including the tail vertebrae

limbs/digits/tail

abnormal humerus morphology ( J:75124 )

absent deltoid tuberosity ( J:75124 )

• deltoid tuberosity of the humerus is missing

digestive/alimentary system

cleft secondary palate ( J:75124 )

growth/size/body

cleft secondary palate ( J:75124 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:75124