Phenotypes Associated with This Genotype

Genotype
MGI:5659902

• Allelic Composition: Sox9^Bbfc/Sox9⁺
• Genetic Background: C57BL/6J-Sox9^Bbfc/GrsrJ

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

adipose tissue

decreased total body fat amount ( J:223062 )

♂ • much lower total body fat in males but no significant difference in females

decreased percent body fat/body weight ( J:223062 )

♂

vision/eye

vision/eye phenotype ( J:223062 )

N • no abnormalities detected in the eyes

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:223062 )

N • no hearing deficit detected

reproductive system

reproductive system phenotype ( J:223062 )

N • no intersex or putatively sex-reversed mice have been noted, sex ratios are normal at birth, and males are fertile

craniofacial

decreased cranium length ( J:223062 )

short maxilla ( J:223062 )

♂

domed cranium ( J:223062 )

short snout ( J:223062 )

abnormal head shape ( J:223062 )

• both females and males have a shortened snout, reduced skull length, and the skull hight to length ratio is increased consistent with the domed appearance of the head

shortened head ( J:223062 )

growth/size/body

short snout ( J:223062 )

abnormal head shape ( J:223062 )

• both females and males have a shortened snout, reduced skull length, and the skull hight to length ratio is increased consistent with the domed appearance of the head

shortened head ( J:223062 )

decreased body weight ( J:223062 )

♂ • males but not females have a significant decrease in total body mass

skeleton

decreased cranium length ( J:223062 )

short maxilla ( J:223062 )

♂

domed cranium ( J:223062 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:223062